13. Metabolic, Biogenetic, Seizure, and Neuromotor Disorders of Childhood

When phenylalanine levels are too high they can produce serious negative consequences, including cognitive retardation (Carey & Lesen, 1998; Hynd & Willis, 1988; Michaels, Lopus, & Matalon, 1988; Waisbren, 1999). PKU can produce neuropsychiatric disorders in children, including behavioral disruption and antisocial problems (Fehrenbach & Peterson, 1989). Cognitive retardation is usually avoided when PKU is appropriately treated (Waisbren, 1999). Lifetime ADHD was also associated with PKU even after successful dietary control (Realmuto et al., 1986). In rare instances, PKU can result in death (Hanley, Linsoa, Davidson, & Moes, 1970) or in seizure activity, abnormal EEGs, spasticity, and reflex and tremor disorders (Hynd & Willis, 1988). The development of neural tissues appears to be affected, with cellular abnormalities and incomplete myelination resulting.

Waisbren (1999) suggests that executive control functions are affected by PKU, including planning skills, integrative processing, and sustained attention. These deficits are particularly acute when information is presented rapidly or when the cognitive load is high—as tasks become more complex and processing time is fast. Deficits of this nature may also be present in early-treated children.

Early medical screening for PKU is widespread and can be extremely effective in reducing the progressive, deleterious developmental and medical difficulties associated with the disorder (Hynd & Willis, 1988). Since universal screening in newborns was implemented in the 1960 s, the severe symptoms of PKU are rarely seen (NIH, 2008).

Neuropsychological assessment may also be important to identify cognitive, reasoning, and visuospatial deficits that have been reported in some children with PKU. Psychoeducational evaluation is effective to determine academic (e.g., learning disabilities, deficits in mathematics), and behavioral adjustment difficulties (e.g., disruptiveness, antisocial behavior, low self-esteem). Waisbren (1999) also suggests that ADHD may result in elevated blood levels of phenylalanine.

Effective interventions focus on dietary control and compliance with these restrictions. Family issues appear to affect dietary compliance, so strategies that address these related factors are discussed.

The negative effects of PKU can be controlled through dietary changes whereby foods containing high levels of phenylalanine (e.g., meats, milk, and milk products) are reduced or eliminated (Carey & Lesen, 1998; Fehrenbach & Peterson, 1989). Thus, PKU is clearly a genetic disorder that is influenced by environmental factors (intake of foods), which directly affect the manifestation and control of the disorder. It is important to initiate dietary treatment early in life (within the first three months) to reduce the possibility of cognitive retardation (Waisbren, 1999). Although early treatment appears to reduce significant cognitive impairment, children with PKU may still have minor cognitive deficits, and the long-term consequences of early treatment are still relatively unknown. Some evidence suggests that the child's cognitive outcome is dependent on a number of factors, including maternal IQ level, the age at which treatment is initiated, and dietary compliance (Waisbren, 1999; Williamson, Koch, Azen, & Chang, 1981).

Waisbren (1999) suggests that compliance to food regimens may become problematic as children struggle with the development of their own identity. Waisbren provides an outline for developing treatment plans for PKU from infancy to adolescence. Many of the strategies shown help the children become more knowledgeable and involved with their own treatment. With age, children become more self-sufficient when taught self-management strategies for monitoring blood levels, selecting appropriate foods, and coping with peer pressure.

At birth, there are no abnormal characteristics, but motor delays and choreoathetoid movements appear within the first year and progressively worsen for infants with LNS (Cook & Leventhal, 1992; Morales, 1999). Children with LNS often develop normally until about eight–24 months of age, when choreoathetosis appears and earlier motor milestones are lost (Matthews et al., 1995). Hypotonia may be present in infants, but hypertonia and hyperreflexia develop. Communication is also hampered because of poor articulation from the palsy in speech musculature (Matthews et al., 1995).

Self-mutilation is characteristic of children between the ages of three and five years, when injuries to facial areas (i.e., eyes, nose, and lips) and appendages (fingers and legs) result from chewing and biting oneself (Hynd & Willis, 1988). Almost all children with LNS show self-injurious behaviors by age eight–10 years, with spasticity, choreoathetosis, opisthotonos, and facial hypotonia also evident (Matthews et al., 1995). Malnutrition may result from severe self-injury to the mouth or from vomiting (Nyhan, 1976).

Although cognitive retardation has been reported, individuals with LNS may be brighter than measured abilities suggest (Nyhan, 1976). Using the Stanford Binet Intelligence Scale, fourth edition (SB-IV), Matthews et al. (1995) investigated intellectual levels for seven subjects. Subjects showed ability levels ranging from moderate cognitive retardation to low average ability. As a group, the sample performed equally well on verbal and nonverbal tasks, although individually they did show a strong preference for either the visual or the verbal modality. Further, attention and higher level intellectual abilities appeared most compromised in this group. Memory, word definitions, and comprehension of complex speech were impaired. Memory deficits affected mental computation, recall of digits backward, visual reasoning, and verbal reasoning. The youngest children performed the best, suggesting that there may be a ceiling for cognitive development for individuals with LNS.

Matthews et al. (1995) caution that standardized tests may not be appropriate for determining functional capacity, educational goals and occupational plans for children with LNS because significant motor difficulties interfere with their performance. Baseline information can be gathered from standardized tests to determine effects of medical, behavioral and educational interventions.

Neuropsychologists play a role in the treatment of children with LNS by providing baseline data to substantiate initial cognitive and psychiatric features of the disorder. To date there is no prescribed assessment protocol for this group, but comprehensive, multifactorial assessment is needed to evaluate the full range and extent of deficits across motor, cognitive, academic, and psychosocial areas. Significant motor impairments may restrict the type of intellectual and neuropsychological measures that can reliably be used with this population. Therefore, the clinician needs to incorporate functional, ecologically based assessment procedures to ascertain skill levels. Efforts should be made to assess functional skills through interview and observation of the individual in a natural setting (e.g., in a classroom or home environment). Careful evaluation of family stress and coping patterns will also be helpful to aid in the planning of interventions.

LNS can be detected during the fetal stage, and research into various medical interventions is underway. Psychopharmacotherapy may be helpful in treating individuals with LNS, but haloperidol, L-dopa, pimozide, diazepam, and clomipramine have been limited in there effectiveness (Watts et al., 1982). Serotonin reuptake inhibitors (e.g., fluoxetine) may help reduce the compulsively self-injurious behaviors (Cook, Rowlett, Jaselskis, & Leventhal, 1992), and other medications have been suggested for use (i.e., 5-hydroxytryptophan, fluphenazine, and naltreone; Cook & Leventhal, 1992). Controlled research into psychopharmacological trials is needed before these avenues can be fairly assessed.

Treatment most often occurs in acute settings where medical professionals work with families to improve the quality of life for individuals with LNS (Bernal, 2006). To date, behavioral interventions have been effective for reducing self-mutilation, although in rare cases self-restraints may be required (Little & Rodemaker, 1998). Residential care or homebound education programs may also be appropriate for some children with LNS. Family members may also require emotional support and additional therapy to deal with the stress that is placed on parents and siblings.

Down syndrome is a disorder associated with mild to severe cognitive retardation (NIH Down Syndrome, 2008). Physical anomalies include small head, flat nose, folds at the corners of the eyes, protruding tongue, and heart, eye, and ear defects. Although infants with Down syndrome may show slower development, they follow the same sequence of development as control children.

Children with Down syndrome are also prone to spinal cord injuries due to lax ligaments between the first and second cervical vertebrate (Heller, Alberto, Forney, & Schwartzman, 1996). Dislocation of this area may weaken the child's arms and legs or, in rare instances, may result in paralysis; thus, some activities that put strain on the neck (e.g., diving and tumbling) should be avoided (Shapiro, 1992). Children with Down syndrome also have higher than normal rates of hip dislocation and dysplasia (Shaw & Beals, 1992). Alzheimer's disease may be linked to the same chromosome associated with Down syndrome. Alzheimer's is a progressive loss of memory and brain function associated with tangling/plaguing of nerve tissue. Older individuals with Down syndrome have shown physiological abnormalities similar to those seen in Alzheimer's patients, and apparently the underlying pathology in both disorders occurs from a defective gene on chromosome 21 (Goldgarber, Lerman, McBride, Saffiotti, & Gajdusek, 1987).

Other medical problems include heart disease, pulmonary hypertension, seizure disorders, hypothyroidism, gastrointestinal, orthopedic, vision disorders, and dermatological conditions (NIH Down Syndrome, 2008). Individuals with Down syndrome are at risk for shorter life spans due to medical complications particularly from congenital heart problems, respiratory illness, and gastrointestinal complications (Cody & Kamphaus, 1999). Even those without heart complications have a higher mortality rate than individuals with cognitive retardation, especially after the age of 35 (Strauss & Eyman, 1996). Data compiled by NIH Down Syndrome (2008) indicate that individuals with Down syndrome also have a 12-fold higher mortality rate from various infectious diseases. Abnormalities in the immune system may account for chronic respiratory and ear infections. Children also have recurring tonsillitis and high rates of pneumonia.

During pregnancy there are a number of diagnostic tests for Down syndrome including amniocentesis and chorionic villus sampling (CVS; NIH Down Syndrome, 2008). In amniocentesis, amniotic fluid is drawn and fetal cells are examined for the presence of chromosomal abnormalities. CVS also involves testing of fetal cells, but these are drawn from samples of chorion which precedes the placenta (Liu, 1991). CVS can be performed early (within seven weeks after conception) and tests can be conducted on the same day. Amniocentesis requires two- to three-weeks of laboratory time to grow cultures, so results are not available until well into the second trimester of the pregnancy (NIH Down Syndrome, 2008). However, CVS may carry a higher risk for complications, resulting in a loss of the fetus in 1 percent–4 percent of cases (Gilmore & Aitken, 1989; NIH Down Syndrome, 2008). Percutaneous umbilical blood sampling (PUBS) is the most accurate diagnostic method, but this technique cannot be performed until later in the pregnancy (18th–22nd week) and has increased risk for miscarriage (NIH Down Syndrome, 2008). Newer diagnostic tests are being developed that detect a number of genetic syndromes (e.g., cystic fibrosis, Lesch-Nyhan syndrome) for mothers undergoing in vitro fertilization.

Early developmental milestones may be delayed for young children with Down syndrome, particularly with motor, language and speech delays. Ongoing developmental assessment in early childhood and later into adolescence is generally recommended to measure cognitive, emotional, behavioral and other academic growth.

While long-term outcomes for early intervention programs are difficult to measure (NIH Down Syndrome, 2008), supportive, enriched environments are recommended for young children with Down syndrome (Cody & Kamphaus, 1999). Children with Down syndrome may experience multiple disabilities that influence their physical, communication, cognitive, and psychosocial performance (Heller et al., 1996). The design of an intervention program depends upon the unique combination of disabilities and the severity of symptoms the child displays. Cognitive retardation affects learning in general and may result in longer learning curves, necessitating repetition and increased drill and practice for academic and/or self-help, daily living skills. Antecedent or response cues appear to be effective for children with cognitive disabilities (Heller et al., 1996), although increased rates of reinforcement may also be required. Basic instruction in daily self-care skills may be necessary and reinforcement and modeling techniques have proven effective. Social interaction skills may also be enhanced through direct instruction in specific skills and reinforcement of appropriate behaviors in naturally occurring situations.

Heller et al. (1996) suggest that children with congenital heart disorders need to be monitored carefully in the classroom depending on the nature and severity of the heart defects. 504 Plans would be appropriate to outline both medical and educational goals. Physical restrictions may be necessary for those with severe forms of heart defects, while milder forms may not necessitate such restrictions. Adaptive physical education, shortened days or special rest times, and homebound education may be needed in some cases. Further, Heller et al. (1996) suggest that children with congenital heart problems should be taught about heart defects, how to identify their own symptoms, what their own limitations are, and how to be their own advocates when decisions about the level of their activities are discussed.

Although Carr (1985) found that individuals with Down syndrome are living longer lives and are in better health than in past years, the long-term outcome is still unsettling. Cody and Kamphaus (1999) suggest that career and vocational planning help older teens and young adults with Down syndrome have more opportunities than they did in the past. Transition into adulthood can be facilitated with post-secondary vocational schooling, on-the-job training, sheltered workshop or other programs that promote independent or semi-independent living.

Fragile X syndrome is associated with mild to severe retardation and is considered to be the most common cause of inherited cognitive retardation (Crawford et al., 2001). Although Down syndrome may account for more cases of cognitive retardation, it is not considered to be inherited from parent to child, but occurs from abnormal chromosomal divisions (LeFrancois, 1995). Unlike Down syndrome, cognitive retardation in Fragile X may not be obvious until later stages of development, where marked intellectual deterioration may occur between the ages of 10 and 15 years of age (Silverstein & Johnston, 1990). Dykens et al. (1989) suggest that the drop in IQ, which may drop from a high of 54 points (between ages five and 10) to 38 points (at older ages), may be due to a “plateau” effect rather than a loss of previously acquired intellectual skills. Nevertheless, impairments in visual and sequential processing skills appear prominent (Cook & Leventhal, 1992).

Hypersensitivity to auditory stimuli, self-injury, and interest in unusual sensory stimuli (smell) may be present. Fragile X is also one of the primary causes of autism (Hessl et al., 2007), with as many as 12 percent of children with autism displaying Fragile X (Wolf-Schein, 1992). Males appear to have more severe symptoms, including language delays, slow motor development, speech impairments, and hyperactivity. Rapid speech, echolalia, and impaired communication skills have been reported (Cook & Leventhal, 1992). Social interactions also appear compromised.

Widespread structural anomalies have been found in males with Fragile X syndrome, including in the cerebellum, hippocampus, and the superior temporal gyrus (Klaiman & Phelps, 1998). These variations may account for the deficits in attention, memory, visual-spatial reasoning, language skills and mathematics that often accompany the disorder.

In an fMRI study investigating affected males, Hessl et al. (2007) found diminished activation patterns in the amygdala and other brain regions known to regulate social cognition. There was less activation of these brain regions when males were observing fearful stimuli, less startle effect, and reduced skin conduction compared to controls.

Male and female carriers are known to acquire Fragile X-associated tremor/ataxia syndrome (FXTAS) later in life (Adams et al., 2007). This is a neurodegenerative disorder with evidence of brain differences in males and females. Volumetric MRI studies show: less reduction in cerebellar volume in affected females compared to affected males, and reduced brain volume and more white matter diseases in affected females compared to controls. Further, the severity of FXTAS symptoms were associated with reductions in cerebellar volume and the form of permutation in male carriers, but not in females (Adams et al., 2007). While females appear to have milder brain changes than males, the pattern of findings is similar.

Specific genetic tests are available to diagnose Fragile X syndrome (NIH Fragile X, 2008). There are few outward signs of Fragile X syndrome in newborns, but some physical characteristics may be observed, including large head circumference; long face; prominent ears, jaw, and forehead, and hyper-mobility and hypertonia (NIH Fragile X, 2008).

While there are no effective cures for Fragile X syndrome and syndrome-specific treatments have not been found, children are eligible for early intervention services including special education (Crawford et al., 2001). The extent to which social interaction, intellectual, and communication abilities are involved may determine the long-term outcome.

Research suggests that individuals with Fragile X syndrome may need treatment for autism and/or pervasive developmental disorders (NIH Fragile X, 2008). While there is evidence that hyperactivity and attentional problems improve with stimulant medications (Hagerman, Murphy, & Wittenberger, 1988), other medications are being investigated to improve behaviors and/or cognitive functioning (NIH Fragile X, 2008). Therapeutic interventions are not well investigated to date, and Cook and Leventhal (1992) suggest that “molecular understanding of pathogenesis may contribute directly to the development of therapeutic strategies” (p. 657).

Characteristics of KS include infertility, male breast development, underdeveloped masculine build, and social-cognitive-academic difficulties (Grumbach & Conte, 1985). Physical characteristics (e.g., long legs, tall stature, small testes and penis for body) may be distinguishing features for diagnosing KS (Ratcliffe, Butler, & Jones, 1990).

Males with KS often have associated behavioral difficulties (i.e., anxiety, immaturity, passivity, and low activity levels), and may present with various problems in peer relations as well as academic, and behavioral problems including impulsivity, aggressiveness, and withdrawal (NIH Klinefelter Syndrome, 2008). Because some children with KS appear shy and withdrawn, teachers may describe these boys as lazy or day dreamy. Many males with KS have difficulties with psychosocial adjustment because of passivity and withdrawal (Robinson, Bender, & Linden, 1990). Further, schizophrenia appears higher among children with KS (Friedman & McGillivray, 1992).

Language and speech delays may be present in anywhere from 25 percent to 85 percent of XXY males (NIH Klinefelter Syndrome, 2008). Children typically have average IQ (Pennington, Bender, Puck, Salbenblatt, & Robinson, 1982). Fine and gross motor delays have been found in some individuals, where dexterity, speed, coordination, and strength may be affected (Mandoki & Sumner, 1991). Children with KS often have a number of academic weaknesses, including difficulty in reading (Netley, 1987; Ratcliffe et al., 1990), spelling (Netley, 1987), and reading comprehension (Graham, Bashir, Stark, Silbert, & Walzer, 1988).

Sandberg and Barrick (1995) indicate that most males with KS are not identified in adolescence or in adulthood, so present research may be skewed toward those individuals with more medical and/or psychological difficulties. Chromosomal analysis is necessary to identify KS, but is not routinely conducted. Careful history taking, in light of psychosocial, behavioral, and academic problems, may suggest the need for a medical consultation and genetic screening. Thorough psychological and educational assessment may shed light on other language and academic delays.

Medical interventions may include testosterone replacement (NIH Klinefelter Syndrome, 2008), and, in cases where gynecomastia (breast development) is present, surgery may be warranted (Sandberg & Barrick, 1995). Although some individuals have been successfully treated with testosterone replacement, not all males have favorable outcomes (Nielsen, 1991). It is important to begin replacement therapy early in life for the most favorable outcomes.

Individual and family therapy may be needed to address the psychosocial needs of the individual with KS. Sandberg and Barrick (1995) suggest implementing opportunities for structured social interactions. Finally, special education interventions may address cognitive, language, and speech-related difficulties.

Neurofibromatosis, tuberous sclerosis, and Sturge Weber syndrome are among the more common neurocutaneous syndromes. These disorders are discussed separately.

NF1 is characterized by the following: spots of skin pigmentation that appear like birthmarks (cafe au lait maculas); benign tumors on or under the skin (neurofibromas); tumors in the iris that are also benign (Lisch nodules); focal lesions in various brain regions (e.g., basal ganglia, subcortical white matter, brain stem, and cerebellum), and freckles in unexposed body areas (e.g., armpit or groin area) (NIH Neurofibromatosis, 2008; Nilsson & Bradford, 1999). NF1 is also associated with learning problems, anxiety related to physical appearance, cluster tumors (plexiform neurofibromas), optic tumors, and seizure disorders. Other signs include high blood pressure, short stature, macrocephaly (large head), and curvature of the spine (NIH Neurofibromatosis, 2008).

North, Joy, Yuille, Cocks, and Hutchins (1995) found that children with NF1 displayed high rates of learning disabilities, poor adaptive social functioning, and high rates of behavioral problems. A bimodal distribution in intelligence scores was found suggesting that the group may have subtypes, specifically those with and without cognitive deficits. Individuals with lower IQs do show abnormal MRI scans (increased T, signal intensity) (North et al., 1995). These lesions are thought to arise from glial proliferation and aberrant myelination. Speech-language, attentional, organizational, and social difficulties were present, although hyperactivity and oppositional and conduct disorders were not apparent.

The physical features of NF1 vary from mild, with cafe au lait spots, to extensive pigmentation and neurofibromas all over the body (Phelps, 1998b). Neurofibromas and brain lesions may not appear until later childhood and adolescence, and with the onset of puberty they have a tendency to increase. While the cafe au lait spots may be present immediately, they too increase with age, along with increased Lisch nodules (Listernick & Charrow, 1990). Symptoms may become so severe in a large number of adolescents that by the age of 15 as many as 50 percent of individuals with NF1 may have health-related problems (Riccardi, 1992).

Academic problems, including a variety of learning disabilities, occur in about 50 percent of children with NF1 (Nilsson & Bradford, 1999; Riccardi, 1992). Visual-spatial disorders, with accompanying reading problems, are common (Hofman et al., 1994; Riccardi, 1992). Compared to noninvolved siblings, NF1 patients have lower cognitive skills (Hofman et al., 1994), but the IQ range varies from cognitive retardation to giftedness (Nilsson & Bradford, 1999). Global and verbal intelligence appear somewhat compromised, although these skills are within the average range (Phelps, 1998b). Nilsson and Bradford (1999) suggest that both language-based and visual perceptual deficits are present, which is consistent with nonverbal learning disabilities (NVLD).

Psychosocial adjustment appears problematic in that NF1 children are often teased because of their appearance, which worsens with age. Children with NF1 often do poorly in school and have trouble establishing friendships. NF is a disfiguring disorder that produces stress and anxiety in afflicted individuals (Benjamin et al., 1993). Attempts to hide the condition often lead to isolation, and high levels of anxiety are not uncommon in adolescents (Benjamin et al., 1993).

NF2 involves the eighth cranial nerve, resulting in hearing loss, imbalances, pain, headaches, and ringing in the ears (NIH Neurofibromatosis, 2008; Phelps, 1998b). These are late appearing tumors (in the 20 s or 30 s), although it is possible to diagnose NF2 in children, particularly when there are multiple skin (absent cafe au lait or Lisch nodules) or CNS tumors. Complications of tumor growth may also affect numbness and/or weakness in arms and legs, and a buildup of fluid in the brain (NIH Neurofibromatosis, 2008).

The presence of cafe au lait spots is often used as a clinical marker for the presence of NF1. However, the number of spots needed to make a diagnosis is controversial, ranging from five to six distinct spots at least 1.5 cm in diameter (Hynd & Willis, 1988). Diagnosis of NF2 is often made following MRI scans, genetic testing, and a review of family history of the disorder, particularly when the physical appearances described above are present (Mautner, Tatagiba, Guthoff, Samii, & Pulst, 1993). MRI, CT scans, X-rays and blood tests may also be used to identify defects in the NF1 gene (NIH Neurofibromatosis, 2008). Doctors also look for hearing loss, conduct audiometry and brainstem evoked potential response tests to determine damage to the 8th cranial nerve, and investigate family history when making a diagnosis of NF2. Prenatal genetic testing may be used for both NF1 and NF2 when there is a history of NF in the family.

Neuropsychologists may assess the child to establish a base rate of cognitive and academic deficits, and to ascertain subsequent neurodevelopmental deterioration that may occur. Thus, the use of a broad-based assessment protocol is advised, including measures of intellectual, language, motor, academic, and psychosocial functioning (Nilsson & Bradford, 1999; North et al., 1995). Executive functions and reasoning skills should also be assessed.

Although specific treatment plans have not been investigated, techniques for addressing learning, behavioral, and academic difficulties may prove helpful. Access to special education services may be appropriate under the category of “Other Health Impaired” (Nilsson & Bradford, 1999; Phelps, 1998b). Children with NF require academic as well as psychological support. Educational staff may need to be informed about the nature, course and features of NF in order to design appropriate interventions. Nilsson and Bradford suggest that interventions for NVLD may be helpful for some children. Compensatory, adaptive strategies may be helpful to increase skills and avoid frustrations.

Surgical removal of tumors may be necessary (Hynd & Willis, 1988). Long-term follow-up is needed because children with NF may show deficits at a later age as demands increase (Montgomery, 1992). Parents may also benefit from counseling and realistic planning for the child's future. Family education and support is also recommended, as families often are not well informed about the disorder (Benjamin et al., 1993; Nilsson & Bradford, 1999). Further research is needed to more clearly establish how these factors affect interventions with this population of children and adolescents.

Children with TS often have cognitive retardation, epilepsy, and hemiplegia (Hynd & Willis, 1988). Seizure activity is common in individuals with TS, and may be as high as 85 percent to 95 percent of those affected. Infantile spasms are common and may worsen with age (NIH Tuberous Sclerous, 2008). However, there appears to be little connection between physical signs (lesions), seizure activity, and intracranial lesions. Psychological and behavioral characteristics have been noted in children with TS, including hyperactivity, aggression, destructive tantrums, and other behavioral control problems (NIH Tuberous Sclerous, 2008; Riccio & Harrison, 1998). Autism has been associated with TS and schizophrenia also appears in some individuals (Cook & Leventhal, 1992; NIH Tuberous Sclerous, 2008).

Surgical removal of CNS tumors (near the ventricular region) may be necessary, but does not always produce good results and may have a high morbidity rate (Hynd & Willis, 1988). Children may require medical evaluations including ultrasound to identify tumors in visceral regions, and EEGs for seizure activity or spasms. Children with TS and severe seizure disorders are also likely to have significant cognitive retardation (Riccio & Harrison, 1998).

Neuropsychological assessment, including academic and psychological evaluation to identify associated features such as hyperactivity, aggression, autism, and other behavioral/psychiatric disorders, is recommended. It is important to identify the full range of associated difficulties prior to designing effective interventions.

Similar to other neurocutaneous disorders, little is known about a specific course of action to take for interventions, other than medical treatment and seizure control. Although psychoeducational interventions for school-related difficulties seem reasonable, efficacy and outcome research has not been conducted. Thus, careful follow-up and monitoring of specific interventions should be conducted on an individual basis to determine which strategies and approaches are most effective for addressing educational and psychological problems. Medical follow-up is essential, and may help determine the long-term outcome of children with TS.

SWS is associated with seizure activity usually occurring within the first two years of life, and progressively worsening with age (NINDS Sturge-Weber, 2008). The extent to which seizures can be controlled often predicts later outcome of the disorder. Cognitive and behavioral problems are common, and the risk for cognitive impairment especially when seizures occur before the age of two years (NINDS Sturge-Weber, 2008).

Medical follow-up is required to identify the nature of neuropathology and to treat seizure activity. In rare cases, hemispherectomy may be necessary to control intractable seizures. While the outcome of neurosurgery has been variable, seizure control has been effective, although severe cognitive retardation was an outcome when the left hemisphere was removed early in life (Falconer & Rushworth, 1960). Severe behavioral disturbances were also reduced following surgery. Neurosurgical intervention is used with caution because of the serious complications associated with hemidecortication, including hemorrhaging into the open cavity, hydrocephalus, and brainstem shifts (Falconer & Wilson, 1969). Furthermore, improved medications for seizure control have reduced the need for invasive surgical techniques (Hynd & Willis, 1988).

Educational services are appropriate to address cognitive and behavioral problems. Disruptive, acting out problems may be reduced with behavior management strategies (Cody & Hynd, 1998). Physical therapy may be needed for some children with muscle weakness (NINDS Sturge-Weber, 2008). Research is currently underway with NINDS support to better understand, diagnose, treat, and prevent this disorder.

Seizure disorders are reviewed next, with attention paid to the transactional nature of the associated features and the need for a transactional, multifaceted intervention plan including medical, academic, and psychosocial approaches.

Partial seizures are associated with diagnosable structural lesions. These seizures do not involve a loss of consciousness, but can evolve into generalized clonic-tonic seizures (Dreifuss, 1994).

This type of seizure results from a specific focus in the gray matter of the brain, which causes an abnormal electrical discharge. The most commonly seen seizure of this type involves the jerking of one part of the body without loss of consciousness. The simple partial seizure foci is in the motor strip area. Other types of simple partial seizures include sensory (simple hallucinations), autonomic (sweating, pallor, hair standing on end on limbs), and psychic (affective problems, speaking, distortion of time sense) seizures with no impairment of consciousness (Hartlage & Telzrow, 1984).

Complex partial seizures generally involve a loss or impairment of consciousness. This alteration of consciousness occurs before the attack or shortly after its beginning. These seizures involve behavioral automatisms such as lip smacking, hair twirling, and hand patting. Problems in orientation in time and space also occur. The focus of this type of seizure is in the temporal lobe as well as the frontal lobes. Some believe the complex partial seizures arising from the frontal lobes are associated with automatisms, while those with a temporal focus relate to a cessation of activity (Delgado-Escueta, Bascal, & Treiman, 1982).

There are three main types of generalized seizures. Of the three, febrile seizures are not considered a seizure disorder. This type of seizure is associated with a fever experienced by a previously neurologically intact child. Although these seizures may reoccur, medication is not used due to the benign nature of the seizure (Hartlage & Telzrow, 1984). The other two types of generalized seizures are absence and tonic-clonic.

This type of seizure was previously labeled petit mal. Seizures of this kind involve an abrupt loss of consciousness. The child's eyes may flicker, roll back, or blink rapidly. When the seizure ceases, the child resumes his or her activity as if nothing unusual has occurred. These seizures may occur very frequently; some children have been known to have over 100 in a day (Hartlage & Telzrow, 1984). Age of onset is 4–8 years. School performance is often seen to fall off, and the child may be described as dreamy or unmotivated. The diagnosis of absence seizures is confirmed by EEG. The EEG will show spikes that are synchronized bilaterally and frontally (normal brain activity is not synchronized), with alternating spike and slow wave patterns (Lockman, 1993). To induce a seizure during an EEG, hyperventilation is used whereby the child is asked to take 60 deep breaths for three or four minutes (Lockman, 1993). Although the etiology of absence seizures is suspected to be genetic in origin, the genetic mechanism has not yet been identified. The risk of siblings also showing absence seizures is approximately three times greater than for the general population (Ottman et al., 1989). Absence seizures are generally treated with one medication. Zarontin is the medication with the fewest side effects (Dooley et al., 1990), followed by valproate (Sato et al., 1982) and clonazepam (Hartlage & Telzrow, 1984). Absence seizures have been known to worsen with the use of carbamazepine (Horn, Ater, & Hurst, 1986). The prognosis for absence seizures is favorable, with approximately half of affected children becoming seizure-free. The other 50 percent may develop tonic-clonic seizures or may continue to experience absence seizures (Lockman, 1993). Sato et al. (1983) found that 90 percent of children of normal intelligence and neurological function with no history of tonic-clonic seizures were seizure-free in adolescence. Conversely, those children with automatisms and motor responses during the absence seizures had a poorer prognosis. Lockman (1994) concluded that typical absence seizures are not necessarily benign and that medical management of these seizures does not necessarily influence the eventual outcome.

Further, increased seizure activity correlated with this type of seizure was formerly called grand ma1 seizure. Epidemiological studies have shown this type of seizure to be the most commonly found in children (Ellenberg, Hirtz, & Nelson, 1984). Tonic-clonic seizures begin with a loss of consciousness and a fall accompanied by a cry. The limbs extend, the back arches, and breathing may cease for short periods of time. This phase can last from several seconds to minutes. The limb extension is then followed by jerking of the head, arms, and legs. This is the clonic phase, which can last for minutes or may stop with intervention (Dreifuss, 1994). Most commonly, the jerking decreases and the child regains consciousness. Headaches and confusion usually ensue. Generally, the child falls into a deep sleep lasting from 30 minutes to several hours. Tonic-clonic seizures can occur after focal discharges and then are labeled as secondary generalization (Dreifuss, 1994). Tonic-clonic seizures are related to metabolic imbalances, liver failure, and head injury. On rare occasions, tonic-clonic seizures may persist for extremely long periods of time or may be repeated so close together that no recovery occurs between attacks. This type of seizure is called status epilepticus (Lockman, 1994). Underlying conditions such as subarachnoid hemorrhage, metabolic disturbances, and fevers (e.g., bacterial meningitis) can trigger status epilepticus in children (Phillips & Shanahan, 1989). Treatment for status epilepticus includes very high dosages of medication and, in some cases, inducing a coma (Young, Segalowitz, Misek, Alp, & Boulet, 1983).

Although children with epilepsy differ from normal peers on a number of social-emotional variables, they do not appear to have higher rates of psychopathology than children with other chronic medical or neurological conditions (Hartlage & Hartlage, 1989). Psychosocial features often include external locus of control, poor self-esteem (Matthews, Barabas, & Ferrai, 1982), and increased dependency (Hartlage & Hartlage, 1989). Neppe (1985) indicates that individuals with epilepsy do experience psychosocial stress due to the effects of having a chronic illness, anxieties over social interactions, and restrictions in everyday activities (e.g., driving). Seizure disorders in childhood are related to other psychiatric conditions. The majority of children (85%) with temporal lobe epilepsy have cognitive retardation (25%) and disruptive behavior disorders, including hyperactivity and “catastrophic rage” (Cook & Leventhal, 1992). Psychopathology, including psychoses, has been described in individuals with epilepsy (Neppe & Tucker, 1992), and psychiatric disorders (i.e., cognitive retardation, hyperkinesis, and rage disorders) have been reported in 85 percent of children with temporal lobe epilepsy (Lindsay, Ounstead, & Richards, 1979). Cook and Leventhal (1992) suggest that the loss of control children may experience as a result of epilepsy may be a special challenge during development, and children may react either passively or aggressively. However, these reactions may be related to how seizure activity affects cognition and impulse control.

Children with seizure disorders require medical diagnosis and follow-up by a child neurologist. Ongoing assessment of neuropsychological, cognitive, and psychosocial functioning is useful for measuring the long-term effects of chronic seizure disorders. Because many children with epilepsy are not easily categorized, each child would benefit from a team that includes a physician, psychologist, teacher, and counselor (Black & Hynd, 1995).

There are a number of moderator variables which need to be recognized when evaluating the performance of a child with a seizure disorder. These variables are etiology of the seizure disorder, age of onset, seizure type, seizure frequency, medication, and family environment. Each of these moderator variables will be discussed in the following sections.

The main classes of etiology for seizure disorders are idiopathic, where the cause is unknown, and symptomatic, where the cause is associated with organic and/or identified neurological problems (Cull, 1988). Children with symptomatic epilepsy generally have lower IQ scores, with many showing cognitive retardation (Sillanpaa, 1992), whereas those with idiopathic epilepsy show normal distribution of intellectual ability. Symptomatic epilepsy is also associated with poorer academic and intellectual outcome. Recently, neural developmental abnormalities have been implicated in the development of seizure-related disorders. Specifically, abnormal cell migration has been associated with both mental retardation and epilepsy (Falconer et al., 1990). As cells migrate and move into their final destinations during embryonic development, genetic and/or environmental factors may disrupt this process and ultimately result in epilepsy.

The majority of studies evaluating the significance of age of onset in relation to cognitive development have found a direct relationship between the two, with children with early onset generally showing poorer cognitive attainment (Seidenberg, 1988). Ellenberg and Nelson (1984) reported that children with normal neurological development prior to the first seizure have a better prognosis for intellectual development at age seven than those who had earlier seizures and poorer neurological attainment. O'Leary, Seidenberg, Berent, and Boll (1981) compared the performance of children with tonic-clonic seizures on the Halstead-Reitan Test Battery for Children. Those children with seizure onset before the age of five years were more impaired on measures of motor speed, attention and concentration, memory, and complex problem solving than those with a later onset. These researchers then evaluated the relationship between age of onset and partial seizure type. O'Leary et al. (1981) found that children with partial seizures and early onset performed more poorly than those with later onset, regardless of whether their seizures were partial or generalized. Similarly, Hermann, Whitman, and Dell (1988) found that children with early onset performed more poorly on eight of 11 scales of the LNNB-C. Evaluating age of onset with seizure type found that children with complex-partial seizures and early onset performed more poorly on Memory, Expressive Speech, and Reading, whereas generalized seizures and early onset were associated with poorer performance on Receptive Speech, Writing, Mathematics, and Intelligence Scales.

Duration of seizure has been found to co-occur with age of onset as a crucial variable and is frequently difficult to evaluate apart from age of onset. Generally it has been found that the earlier the onset of seizures, the longer the duration (Black & Hynd, 1995). Early onset and long duration appear to be associated with a poorer prognosis for learning. The number of seizures over the life span is a contributing factor to poor outcome as well. Seidenberg (1988) makes the point that further study is needed in this area to determine whether the neuropsychological impairment is broad-based and general, or whether there are specific areas of functioning that are more vulnerable during specific periods of development. This may be a likely case given what we know about neurodevelopment and increased cognitive, language, memory, and reasoning abilities in children. Thus, age of onset and seizure duration are important variables to consider when evaluating children with seizure disorders, particularly when planning for their educational and vocational needs.

While anticonvulsant medications are commonly prescribed for children with nonfebrile seizure disorders, these medications (e.g., Phenobarbital) produce adverse side effects (e.g., sedation) that interfere with academic performance (Cook & Leventhal, 1992), and may increase hyperactivity (Vining et al., 1987) or depression (Brent, Crumrine, Varma, Allan, & Allman, 1987). Newer medications (lamotrigine and felbamate) may be used when side effects are not well tolerated or when traditional medications (i.e., valporate and carbamazepine) do not control seizure activity (Williams & Sharp, 2000).

In a review of pediatric pharmacology, DuPaul, McGoey, and Mautone (2003) list common anticonvulsant mediations for treating various seizure types: (1) Phenobarbitol, phenytoin, carbamazepine, and valporate for clonic-tonic seizures; (2) ethosuximide or valporate for absence seizures; (3) carbamazepine, phenytoin, and valporate for partial seizures, with (4) gabapentine or felbamate as second line medications.

In rare cases of intractable seizures, surgical transactions may be an option when the seizures are localized to one region in the brain. In a meta-analysis of studies, it was concluded that surgery produces long-term seizure-free outcomes, especially for temporal lobe resective surgery (Tellez-Zenteno, Dhar, & Wiebe, 2005); however, it is clear that not all children who undergo brain surgery are seizure-free. Studies appear to document resiliency in the developing brain, where intact brain regions compensate for regions that have been removed. For example, Meyer, Marsh, Laws, and Sharbrough (1986) found that children who had undergone surgical removal of the dominant temporal lobes, including the hippocampus and amygdala, showed no significant decline in verbal, performance, or full-scale IQ scores. Smith, Walker, and Myers (1988) also found that a six-year-old made remarkable postoperative recovery following surgical removal of the right hemisphere. The child had perinatal epileptogenic seizures that worsened and spread from the right to the left hemisphere. Post-surgical test scores showed average verbal intelligence (96), low average performance abilities (87), and average full-scale (90) potential. The extent to which cognitive abilities improve or develop following surgical interventions depends on a number of factors, including the age of the child and the location of the lesion, once intact brain regions are freed from the abnormal influences of the lesioned regions.

Recent studies have investigated the kerogenic diet (KD) to determine safety and efficacy for treating intractable epilepsy (Kang & Kim, 2006). The diet has a ratio of 1:4 fat to nonfat foods, is high in protein and restricts carbohydrate intake, and has both anticonvulsant properties and also reduces the development of recurring seizures and epilepsy (Freeman, Kossoff, & Hartman, 2007). In a review of patients treated with the kerogenic diet at St. John’s Hospital, Groesbeck, Bluml, and Kossoff (2006) found that after six years, seizure activity was significantly reduced in children on the diet. Side effects included kidney stones, slowed growth, and bone fractures. Other studies document early onset (i.e., gastrointestinal disturbances, dehydration, biochemical disturbances) as well as late onset (i.e., heptic failure, mineral and vitamin deficiencies) symptoms which require scheduled medical assessments to evaluate adverse effects of the diet (Freeman et al., 2000). Henderson et al. (2006) found children with generalized seizures and those who showed more than a 50 percent reduction in seizure activity were more likely to remain on the diet.

Despite their efficacy, neurologists are not likely to prescribe kerogenic diets for patients, even though they adhere to other evidence-based practices (i.e., antiepileptic medications) when treating children with epilepsy (Mastriani, Williams, Hulsey, Wheless, & Maria, 2008). See Freeman et al. (2007) for a more extensive review of the KD treatment for seizure disorders.

Given previous research, it appears imperative to assess variables such as family strain, behavioral concerns, and discipline, and to plan interventions taking these factors into consideration. Parenting, stress management, and epilepsy education are likely avenues for intervention. It is important in the course of epilepsy education to discuss the potential for parents to overcompensate for their child's illness and the possible guilt that may accompany a diagnosis. Parents who expect to provide lifetime care for their child do not facilitate the development of independent behaviors. Moreover, parents may lower expectations for their child's academic performance. Therefore, it is crucial to discuss these possibilities with parents and to help them set realistic goals for their child and encourage coping skills for the child with epilepsy and seizure disorders (Freeman, Vining, & Pillas, 2003). When a transactional approach is not taken, the child's program will be incomplete and most likely will be at least partially unsuccessful.

Students with seizure disorders or epilepsy may access educational services under “other-health impaired” as defined by the Individuals with Disabilities Act (IDEA; NICHY, 2004). The school should not only be aware of the diagnosis of epilepsy, but educational staff should develop and institute a plan for working effectively with the child who has a seizure disorder. 504 plans may also be helpful to address medication issues (i.e., efficacy and side effects), and to establish home-school-physician communication.

The pediatric neuropsychologist can be helpful in the initial planning and implementation phase of the educational program. At the very least, medication monitoring is important. Sachs and Barrett (1995) list behavioral side effects of medication, such as drowsiness, lethargy, overactivity, confusion, and motor signs (e.g., clumsiness), and suggest that teachers should be on the look-out for these signs. Moreover, information on what action should be taken in the event of a seizure in school is very important for teachers and staff. Generally, little action is needed except when the child needs to be protected from injury. It is not appropriate to place items in the child's mouth, to restrain the child, or to perform cardiopulmonary resuscitation (NICHY, 2004).

Communication between the school and the physician is important for monitoring the child's seizure frequency and medication response (Lechtenberg, 2002; NICHY, 2004). The pediatric neuropsychologist may serve a much needed service in interpreting medical information for school personnel and parents. Linking these services is desirable to understand the child's needs and to develop a comprehensive intervention program for the child. Formulating the program can assist in planning for psychosocial stressors that may occur at home or in school, monitoring medication compliance and effectiveness, and enhancing the child's school performance in either special or regular education (Teeter & Semrud-Clikeman, 1998). Helping peers to understand the child's needs and his or her occasional unusual behaviors (during seizure activity) may smooth the way for children with seizure disorders to develop healthy peer relationships.

In summary, a transactional approach is an important vehicle for understanding and planning for the needs of children with seizures disorders. Similarly, children with head injuries would benefit from this type of integrated approach. See Chapter 14 for a discussion of interventions for children sustaining traumatic brain injury. Cerebral palsy is reviewed next.

Low birth weight babies are at high risk for developing CP. As a result of increased rates of survival, CP in low birth weight babies is increasing (Colver et al., 2000). Survival rates for CP appear to depend on the severity of the disorder and the level of intelligence. Children with severe motor involvement and extremely low IQ have a shorter life expectancy.

Premature infants who are significantly smaller than expected appear to be at high risk for CP (Colver et al., 2000). Frequent medical difficulties found in these infants may contribute to the development of CP. These complications include intraventricular hemorrhage, white matter necrosis, and variation in cerebral blood flow (Leviton & Paneth, 1990). Evidence for the involvement of these complications in CP has been found by ultrasonography in infants and neuroimaging for older children and adults (Krageloh-Mann et al., 1992).

Twins who are low birth weight appear to be at special risk for CP as well (Nelson Swaiman, & Russman, 1994). If one of the twins dies at or before birth, the remaining twin appears to be at high risk for CP (Szymonowicz, Preston, & Yu, 1986). In fact, the incidence of twins in the general population is 2 percent, with a 10 percent incidence rate of CP within this sample (Grether et al., 1992).

Babies who sustain brain damage during delivery are at high risk for CP. Occlusion of a cerebral artery or prenatal strokes that restrict blood flow to the brain are the most common causes of hemiparetic CP (Lee et al., 2005). Strokes were most common in first born children and other birth complications (i.e., emergency C-section, ruptured membranes, prolonged second stage labor, and vacuum extraction). Infants sustaining strokes appear to have heart anomalies, inflammation of the placenta, and umbilical cord abnormalities. More than half of infants with one of these risk factors did not suffer a perinatal stroke.

Infants born with brain damage frequently show low tone, breathing problems, low APGAR scores, delayed reflexes, and seizures (Nelson & Leviton, 1991). When all these symptoms are present, the child is at greater risk for CP, with the risk decreasing as the number of presenting symptoms decreases (Ellenberg & Nelson, 1984; Seidman et al., 1991).

While subtypes of CP appear related to different causes, most children and adults with CP did not experience oxygen deprivation during birth. Asphyxia has been most closely related to quadriplegia (Nelson & Leviton, 1991). In most cases, however, it is not possible to determine the cause of CP.

There are a number of pre- and postnatal complications that increase the risk for CP. In a review of research investigating pregnancy and pre-pregnancy infections, Dammann and Leviton (2006) reported that maternal infections place fetal brains at risk for neonatal white matter damage, including CP. New research investigating how to prevent infections to the mother prior to and during pregnancy is needed as well as an investigation of effective methods to protect the developing fetus. Wu and Colford (2000) also found that inflammation of the fetal membrane (chorioamnionitis) is associated with an increased risk for cystic periventricular leukomalacia and CP in pre-term and full-term babies. Other studies have shown that intra-amniotic inflammation following amniocentesis and subsequent inflammatory responses in the fetus (funisitis) place newborns at higher risk for CP by the age of three years (Hun et al., 2000).

Pre-term infants (before 12 hours of age) who received a three-day course of dexamethsone to prevent chronic lung diseases were at a risk for a range of medical problems including hypertension, gastrointestinal hemorrhage, and hyperglycemia (Shinwell et al., 2000). Stoll et al. (2004) also found that pre-term infants are at risk for infections (e.g., sepsis, meningitis), which increases the risk for CP. It has been hypothesized that cytokines, chemicals that fight the infections, may cause damage to the brain. These young infants were also at greater risk for CP, with the most common form being spastic diplegia, and developmental delays were also higher (Shinwell et al., 2000). Maternal infections (i.e., bladder or kidney) appear to be risk factors of infants with normal birth weight (Grether & Nelson, 1997).

Children with CP appear to have structural brain disorders which may be related to abnormal neuronal migration (Volpe, 1992). In these cases cells have migrated to the wrong place and, thus, brain layers are disordered, cells are out of place, and/or there are too many or not enough cells in certain critical brain regions. Volpe (1992) estimates that approximately 33 percent of CP in full-term infants involves some disordered cells and layers due to cortical malformation deficits.

Cerebral palsy is not a unitary disorder; rather, it consists of many subtypes, which share the common symptoms of movement disorder, early onset, and no progression of the disorder (Nelson et al., 1994). Cerebral palsy is generally subtyped by the area of the body involved, level of difficulty experienced, and concomitant disorders.

Children with this subtype show difficulties on one side of their body, with more arm than leg involvement. The right side of the body (left hemisphere) appears to be at the highest risk for involvement and is found in two-thirds of patients (Crothers & Paine, 1959). The child's walk is characterized by toe walking and swinging the affected leg in a semicircular movement when taking steps. Moreover, the affected arm does not follow the reciprocal movement usually seen in walking. The foot faces in toward the middle of the body, with hypotonia present throughout the limbs. The affected side often appears smaller and during development becomes noticeably smaller than the unaffected side. This condition frequently causes lower spinal and walking difficulties as the child develops (Nelson et al., 1994). Children with this type of CP may show cognitive retardation (28%) and seizure disorders (33%) (Aicardi, 1990). In addition, brain studies using MRI and CT scans have frequently found atrophy of the affected hemisphere with areas of cortical thinning, loss of white matter, and expansion of the same-side lateral ventricle (Uvebrandt, 1988).

Spastic QuadriplegiaIn contrast to spastic hemiplegia, spastic quadriplegia is characterized by increased muscle tone, with the legs the most involved (Nelson et al., 1994). Some difficulty with articulation and swallowing may be present when the corticospinal tract is involved. Almost half of children with this subtype are cognitively retarded or learning disabled (Robinson, 1973), and a large percentage have tonic-clonic seizure disorders (Ingram, 1964). These children also frequently have visual impairments. Children with this type of CP often have morphological abnormalities, generally in the white matter, including death of white matter, edema, and cysts (Chutorian, Michener, Defendini, Hilal, & Gamboa, 1979). In addition to missing white matter in specific areas, the cortex underlying the white matter exhibits a thickening of the meninges and gliosis in the white matter (Nelson et al., 1994). Nelson et al. (1994) further report that these lesions can vary from one full hemisphere to one lobe, to a specified portion of a lobe. Some structural deviations are also found in the brainstem (Wilson, Mirra, & Schwartz, 1982).

Spastic diplegia generally involves both legs, with some arm involvement. This type of CP is commonly found in premature infants, with approximately 80 percent of infants with motor abnormalities showing this type of CP (Hagberg, Hagberg, & Zetterstrom, 1989). These children may later develop ataxia and frequently toe walk (Nelson et al., 1994). The clinical picture of children with spastic diplegia includes hypertonia with rigidity. Many children show generalized tonic-clonic seizures (27%) (Ingram, 1955), strabismus (43%) (Ingram, 1955), and cognitive retardation (30%, with increasingly higher rates as more extremely low birth weight babies survive) (Hagberg et al., 1989).

The brains of these children often evidence porencephalic cysts and microgyria (many small gyri) with abnormalities in tracts which serve the legs as they transverse the internal capsule (Christensen & Melchior, 1967). Atrophy, abnormal cortical formation, and periventricular lesions have been found to strongly correlate with severe impairment (Hagberg et al., 1989).

This type of CP involves problems with posture, involuntary movements, hypertonia, and rigidity (Nelson et al., 1994). Extrapyramidal CP can be further divided into choreoathetotic and dystonic CP.

This type of CP is characterized by involuntary movements that are very large and marked by slow, irregular, twisting movements seen mostly in the upper extremities. This type of CP has been most clearly associated with birth asphyxia and oxygen deprivation (Nelson et al., 1994). Use of ventilation and brain lesions due to asphyxia are frequently seen immediately after birth. Changes in the caudate nucleus are generally found, with cysts present where arteries and veins have swelled and neighboring cells are negatively affected (Volpe, 1987). Demyelinization is often present, with deviations in critical columns and neuronal loss in corticospinal tracts. An MRI study by Yokochi, Aiba, Kodama, and Fujimoto (1991) reported that a majority of children have basal ganglia, thalamic, and white matter lesions. In this subtype of CP, muscle tone will fluctuate between hypertonic, normal, and hypertonic. Choreiform movements are present in the face and limbs, and are asymmetric, involuntary, and uncoordinated (Nelson et al., 1994). Children with choreoathetotic CP frequently have speech production problems, with unexpected changes in rate and volume. The upper motor neuron unit appears to be affected, and this is frequently accompanied by seizures and cognitive retardation (Nelson et al., 1994).

This form of CP is believed to be uncommon, with the trunk muscles being mostly affected. The trunk may be twisted and contorted, which affects the head’s movement (Nelson et al., 1994).

Children with atonic CP have hypertonic and muscle weakness in the limbs. This type of CP is less common than the other subtypes and is associated with delayed developmental motor milestones. Its cause is unknown, and it is not known which brain region is affected in this subtype of CP (Nelson et al., 1994).

Ataxic CP is associated with dysfunction of the cerebellum leading to difficulty with skilled movements (Hagberg, Hagberg, Olow, 1975). Hypotonia, poor fine motor skills, and clumsiness are seen and identified late in the first year of life. Walking develops very late (three or four years of age), and frequent falling is observed in children with ataxic CP (Nelson et al., 1994). Findings of brain pathology in ataxic CP are inconsistent. Some researchers have found abnormality in the cerebellar vermis (Bordarier & Aicardi, 1990), while others have found differences in the cerebral hemispheres (Miller & Cala, 1989).