Practice parameter: diagnostic assessment of the child with cerebral palsy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

OBJECTIVE: The Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society develop practice parameters as strategies for patient management based on analysis of evidence. For this parameter the authors reviewed available evidence on the assessment of a child suspected of having cerebral palsy (CP), a nonprogressive disorder of posture or movement due to a lesion of the developing brain. METHODS: Relevant literature was reviewed, abstracted, and classified. Recommendations were based on a four-tiered scheme of evidence classification. RESULTS: CP is a common problem, occurring in about 2 to 2.5 per 1,000 live births. In order to establish that a brain abnormality exists in children with CP that may, in turn, suggest an etiology and prognosis, neuroimaging is recommended with MRI preferred to CT (Level A). Metabolic and genetic studies should not be routinely obtained in the evaluation of the child with CP (Level B). If the clinical history or findings on neuroimaging do not determine a specific structural abnormality or if there are additional and atypical features in the history or clinical examination, metabolic and genetic testing should be considered (Level C). Detection of a brain malformation in a child with CP warrants consideration of an underlying genetic or metabolic etiology. Because the incidence of cerebral infarction is high in children with hemiplegic CP, diagnostic testing for coagulation disorders should be considered (Level B). However, there is insufficient evidence at present to be precise as to what studies should be ordered. An EEG is not recommended unless there are features suggestive of epilepsy or a specific epileptic syndrome (Level A). Because children with CP may have associated deficits of mental retardation, ophthalmologic and hearing impairments, speech and language disorders, and oral-motor dysfunction, screening for these conditions should be part of the initial assessment (Level A). CONCLUSIONS: Neuroimaging results in children with CP are commonly abnormal and may help determine the etiology. Screening for associated conditions is warranted as part of the initial evaluation.

Prospective analysis of strength in spinal muscular atrophy. DCN/Spinal Muscular Atrophy Group.

Spinal muscular atrophy is a genetic disorder of the motor neurons that causes profound hypotonia, severe weakness, and often fatal restrictive lung disease. Patients with spinal muscular atrophy present a spectrum of disease from the most severe infantile-onset type, called Werdnig-Hoffmann disease (type 1), associated with a mortality rate of up to 90%, to a late-onset mild form (type 3), wherein patients remain independently ambulatory throughout adult life. Although many clinicians agree that patients with spinal muscular atrophy lose motor abilities with age, it is unknown whether progressive weakness occurs in all patients with spinal muscular atrophy. We present here results of the first prospective study of muscle strength in patients with spinal muscular atrophy. There was no loss in muscle strength as determined by a quantitative muscle test during the observation period. However, motor function diminished dramatically in some patients with spinal muscular atrophy. Explanations for this loss of function could not be determined from our data. Decrease in motor function could be caused by factors other than loss of strength. Therefore, it is not clear from our results whether spinal muscular atrophy is a neurodegenerative disease. We conclude that treatment trials in spinal muscular atrophy should be designed with consideration of the natural history of strength and motor function in this disorder.

Cerebral palsy: a rational approach to a treatment protocol, and the role of botulinum toxin in treatment.

Cerebral palsy (CP) is characterized by aberrant control of movement or posture and appears early in life secondary to central nervous system damage. The symptoms of CP fall into four groups: symptoms due to loss of selective motor control; symptoms due to abnormal muscle tone; symptoms due to imbalance between muscle agonists and antagonists; and symptoms due to impaired balance. The goals of treatment are to maximize function and minimize the development of joint contracture and other secondary problems. Development of a treatment plan begins with the definition of objectives and consideration of the effects of growth and development on the patient's abilities. The role of botulinum toxin in CP treatment has grown in recent years. The patient who could benefit most from botulinum toxin treatment is one who is hypertonic and whose abnormal muscle tone is interfering with function, or who is expected to develop joint contracture with growth because of this abnormal tone. By altering this muscle tone, function can be enhanced or additional therapeutic modalities can be employed. Assessing treatment outcomes for BTX injection involves the same set of questions and measurements as for other types of treatments and depends on the careful definition of treatment objectives beforehand.

Function changes in spinal muscular atrophy II and III. The DCN/SMA Group.

The course of spinal muscular atrophy (SMA) is not well established except for those patients whose age of onset is before 6 months and who achieve only "sit with support" as their maximum function (Werdnig-Hoffmann disease or SMA I). This study shows that there is another group of SMA patients whose age of onset and maximum function achieved can be used as prognostic guides. Fifty percent of SMA patients who could walk without assistance and whose onset was prior to age 2 years lost the ability to walk independently by age 12. Fifty percent of SMA patients who walked and whose onset was between 2 and 6 years of age lost walking ability by age 44 years. Fifty percent of SMA patients who could walk with assistance as their best function ever achieved lost this ability by age 7 years, unrelated to age of onset; none could walk with assistance after age 14 years. Seventy-five percent of SMA patients who developed the ability to sit independently as their best function were still sitting after age 7 years independent of age of onset; 50% of this group could sit independently after age 14 years. Eighty-five percent of SMA patients who could walk could not negotiate stairs without holding onto a rail. They could raise their hands above the head; however, as they lost walking ability, they lost this function as well. Only one SMA patient whose maximum function was sitting independently could get to the sitting position on his own. Only two of these patients could hold their hands above their heads. All patients with SMA lose function over time. This function loss occurs slowly and is related primarily to maximum function achieved; knowledge of age of onset provides helpful information, especially for predicting the loss of independent walking.

Pulmonary function in spinal muscular atrophy.

We present the first prospective study on pulmonary function in spinal muscular atrophy patients. Seventy-seven spinal muscular atrophy patients, ages 5 to 18 years, from three centers, were studied with regard to forced vital capacity, using height as a predictor. Patients were categorized into four motor function categories. The highest-functioning group had normal or near-normal values, and those who sat with support had the lowest values. Those with intermediate function had intermediate values. Forced vital capacity was studied longitudinally in 40 spinal muscular atrophy patients for 1.1 to 4.4 years. Eighty-eight percent of patients grew in height, but only 35% showed an increase in height-adjusted forced vital capacity percent. In those patients with the least function, 100% lost height-adjusted forced vital capacity over time. In those patients with the highest function, 57% lost height-adjusted forced vital capacity. In addition, the basic forced vital capacity, not correlated to height, decreased in 43% of cases. These pulmonary function alterations appear to be important determinants for function and survival in spinal muscular atrophy patients.

Neuromuscular diseases of childhood.

This review covers three areas. First, dramatic progress in the discovery of abnormal loci on certain chromosomes associated with several motor unit diseases eventually will obviate the need for more invasive testing. Second, new information about the natural course of spinal muscular atrophy is beginning to clarify the nature of this disease. Third, changes in the treatment of the acute and chronic polyneuropathies has shortened hospital stays.

Spinal muscular atrophy: new thoughts on the pathogenesis and classification schema.

We have established the first prospective, collaborative study of spinal muscular atrophy, the second most common neuromuscular disease of childhood. One hundred and forty-one patients have been evaluated on at least four occasions over a 3-year period. The patients have been grouped by age of onset, as well as by function at the time of initial evaluation. The muscle strength of 96 patients aged 5 years or older was evaluated at 6-month intervals using a fixed myometry system. The new observations made are: (1) The present classification schema is not valid; for example, 49 patients with onset of weakness before 6 months of age (type I or Werdnig-Hoffmann disease), whose life span is said to be only 2 to 4 years, participated in the study and are 4 months to 31 years of age. (2) Thirty-seven patients were evaluated over an 18-month period. None lost strength during this time but four lost function. Although the period of observation was short, the results suggest that the loss of function in patients with spinal muscular atrophy might be explained by a process other than cell death that allows patient strength to be maintained and simultaneously prevents the motor unit from achieving its normal adult potential.

Muscle biopsy and the clinical course of infantile spinal muscular atrophy.

Eight infants with severe early infantile spinal muscular atrophy diagnosed by clinical presentation and muscle biopsy were studied. The extent of alterations in muscle histology, histochemistry, and ultrastructure did not reflect the relative severity of the clinical presentation or the course of the illness. In seven biopsies, ultrastructural studies demonstrated empty sleeves of basal lamina projecting from the surface of small myofibers. We conclude that severe infantile spinal muscular atrophy often results in myofiber atrophy similar to that found in other motor neuron diseases, and it is not solely a hypotrophic process. Muscle biopsy findings are important because they help to establish the diagnosis, but they do not help predict the severity of disease among infants with this condition.

Sources of information used in diagnosing childhood learning disabilities.

One hundred nineteen questionnaires in which board certified/eligible child neurologists were asked to rank the diagnostic importance of 8 sources of information commonly used in the assessment of children with learning disabilities were analyzed by the Wilcoxon matched-pairs signed ranks test. All pairwise comparisons of the 8 sources revealed significant differences (P less than or equal to .033) except for psychologic reports (mean rank +/- 1 S.D. = 2.09 +/- 1.14) and medical histories (2.26 +/- 1.45) which were rated equal (P = .397) and, compared to the other sources, diagnostically most useful (P less than .0001). Analysis of the 6 remaining sources demonstrated the following: teachers' reports (3.39 +/- 1.35) were deemed more helpful than the mental status examination (3.92 +/- 1.61; P = .033) and questionnaires distributed to parents and teachers (5.05 +/- 2.11) were more useful than findings on the remainder of the neurologic examination (5.81 +/- 1.46; P = .012). Social service reports (6.45 +/- 1.32) took precedence over soft signs (7.12 +/- 1.05; P = .001) which were considered the least diagnostically helpful. Analysis of variance revealed that this rank order was relatively independent of the responders' age, type of practice, years elapsed since completion of training and percentage of professional time spent examining pediatric patients. Information derived from outside sources (collective mean rank +/- 1 S.D. = 4.25 +/- 0.9) contributed significantly more to the diagnosis of learning disabilities than to information elicited directly by the examining neurologists (4.77 +/- .88; P = .002).(ABSTRACT TRUNCATED AT 250 WORDS)

Juvenile Leigh's encephalomyelopathy with peripheral neuropathy, myopathy, and cardiomyopathy.

A child with typical histopathologic changes of Leigh's subacute necrotizing encephalomyelopathy presented with a chronic demyelinating neuropathy. During her 11-year course, she developed an unusual myopathy and cardiomyopathy in addition to many of the previously described manifestations of Leigh's disease. Despite an extensive evaluation, the biochemical basis of her condition was never identified. This case demonstrates another unique constellation of clinical alterations associated with subacute necrotizing encephalomyelopathy, and that chronic demyelinating neuropathy can be an important initial presentation of the disease.

Rehabilitation of the pediatric patient with a neuromuscular disease.

A rehabilitation program for a patient with a neuromuscular disease can be developed only after an accurate diagnosis has been established. The diagnosis and its ramifications should suggest a natural course of disease which, it is hoped, can be improved upon with a rational and realistic program. The program is best developed by an interdisciplinary team, including a pediatric neurologist, who should have the greatest understanding of the patient's problem and should ultimately be responsible for the implementation and monitoring of the program. A child with cerebral palsy commonly requires the services of physical and occupational therapists as well as knowledgeable orthopedists. Is the program appropriate? Does it consider the child's potential as well as his limitations? A child with a traumatic brain injury requires, in addition to the above, psychological intervention and an intensive educational program. Will the child and family need help from mental health professionals? A child with a motor unit disease such as Duchenne's muscular dystrophy requires, in addition to the above services, a "philosophy" of care. Will the child ever ambulate independently? If so, at what cost? What will be necessary for the child to reach this potential, including items such as orthoses and adaptive equipment? Will respirator care become necessary? What issues must be addressed for this form of care to be established? There is no one program for all children. The programs must be individualized to meet the needs of the patient and the family. This point cannot be overemphasized.

Differentiation of epileptic from nonepileptic head drops in children.

To study the differences between epileptic and nonepileptic head drops, 351 episodes in 24 children were analyzed by EEG-videotelemetry monitoring. Drops were classified as either epileptic or nonepileptic depending on the presence or absence of concomitant ictal EEG discharges. Ictal discharges included generalized spike-wave, polyspike-wave, bilateral sharp wave, generalized delta, and generalized beta activity. Children with epileptic drops (group I) were similar to children with nonepileptic drops (group II) with respect to age, sex, number of recorded episodes, and presence of mental retardation or other abnormalities on neurologic examination. Group I patients had a significantly higher prevalence of ictal changes in facial expression, subtle myoclonic extremity movements, generalized interictal EEG discharges, and other seizure types. Drops characterized by rapid head descent followed by slow recovery to the upright position were significantly more common in group I patients, whereas drops in which the velocity of recovery matched that of head descent (head nods) were equal in the two groups. Repetitive nods (head bobs) were observed exclusively in group II patients. These clinical and electrophysiologic features may assist in differentiating epileptic from nonepileptic head drops in children.