Joseph E. Hornyak

Body mass index measures in children with cerebral palsy related to gross motor function classification: a clinic-based study.

Hurvitz EA, Green LB, Hornyak JE, Khurana SR, Koch LG: Body mass index measures in children with cerebral palsy related to gross motor function classification: a clinic-based study. Am J Phys Med Rehabil 2008;87:395–403. Objective:To investigate the prevalence of overweight in a clinic-based population of children with cerebral palsy (CP) and its association with gross motor function status. Design:Retrospective chart review. We calculated body mass index (BMI; kg/m2) from charted height and weight and recorded Gross Motor Function Classification Scale (GMFCS levels I–V) on the basis of clinical descriptions in clinic notes for 137 children (2–18 yrs old) with CP seen in a pediatric rehabilitation clinic at an academic medical center. BMI percentiles were reported according to sex-specific age group standards for growth set by the U.S. Centers for Disease Control and Prevention (CDC). Associations were modeled by Pearson’s &khgr;2 distribution. Results:Out of the total CP subject group, 29.1% were considered overweight (>95th percentile) or at risk for overweight (85th to 95th percentile). Ambulatory children (GMFCS levels I and II) showed a trend (Pearson’s &khgr;2, P = 0.06) toward higher prevalence of overweight (22.7%) compared with nonambulatory children (levels IV and V, 9.6%). Underweight was more prevalent in nonambulatory children (P < 0.01). Logistic regression analysis did not identify any significant predictors for overweight. Conclusions:In our patient population, analysis of BMI suggests that children with CP have a high rate of overweight and are at risk of overweight, particularly among ambulatory children. More study is needed, using measures more accurate than BMI, to clarify risk.

Relationship of spasticity to soft tissue body composition and the metabolic profile in persons with chronic motor complete spinal cord injury.

Abstract Background/Objective: To determine the effects of spasticity on anthropometrics, body composition (fat mass [FM] and fat-free mass [FFM]), and metabolic profile (energy expenditure, plasma glucose, insulin concentration, and lipid panel) in individuals with motor complete spinal cord injury (SCI). Methods: Ten individuals with chronic motor complete SCI (age, 33 ± 7 years; BMI, 24 ± 4 kg/m2; level of injury, C6—T11; American Spinal Injury Association A and B) underwent waist and abdominal circumferences to measure trunk adiposity. After the first visit, the participants were admitted to the general clinical research center for body composition (FFM and FM) assessment using dual energy x-ray absorptiometry. After overnight fasting, resting metabolic rate (RMR) and metabolic profile (plasma glucose, insulin, and lipid profile) were measured. Spasticity of the hip, knee, and ankle flexors and extensors was measured at 6 time points over 24 hours using the Modified Ashworth Scale. Results: Knee extensor spasticity was negatively correlated to abdominal circumferences (r = -0.66, P = 0.038). After accounting for leg or total FFM, spasticity was negatively related to abdominal circumference (r = -0.67, P = 0.03). Knee extensor spasticity was associated with greater total %FFM (r = 0.64; P = 0.048), lower %FM (r = -0.66; P = 0.03), and lower FM to FFM ratio. Increased FFM (kg) was associated with higher RMR (r = 0.89; P = 0.0001). Finally, spasticity may indirectly influence glucose homeostasis and lipid profile by maintaining FFM (r = -0.5 to -0.8, P < 0.001). Conclusion: Significant relationships were noted between spasticity and variables of body composition and metabolic profile in persons with chronic motor complete SCI, suggesting that spasticity may play a role in the defense against deterioration in these variables years after injury. The exact mechanism is yet to be determined.

Physical Activity Patterns of Youth with Down Syndrome

The purpose of this study was to examine the physical activity patterns of children with Down syndrome. A cross-sectional approach and accelerometry were used to measure the time children with Down syndrome (N = 104) spent in sedentary, light, and moderate-to-vigorous physical activity. Results indicated that adolescents from ages 14 to 15 years were the most sedentary and spent the least amount of time in light and moderate-to-vigorous physical activity. A general trend of decreasing physical activity as children increase in age was found. This trend is similar to that found among typically developing youth. Participants in this study were found to spend a majority of their day engaged in sedentary activities. Results indicate that most participants were not accumulating the recommended 60 minutes of moderate or vigorous physical activity.

Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Objective: To delineate optimal diagnostic and therapeutic approaches to congenital muscular dystrophy (CMD) through a systematic review and analysis of the currently available literature. Methods: Relevant, peer-reviewed research articles were identified using a literature search of the MEDLINE, EMBASE, and Scopus databases. Diagnostic and therapeutic data from these articles were extracted and analyzed in accordance with the American Academy of Neurology classification of evidence schemes for diagnostic, prognostic, and therapeutic studies. Recommendations were linked to the strength of the evidence, other related literature, and general principles of care. Results: The geographic and ethnic backgrounds, clinical features, brain imaging studies, muscle imaging studies, and muscle biopsies of children with suspected CMD help predict subtype-specific diagnoses. Genetic testing can confirm some subtype-specific diagnoses, but not all causative genes for CMD have been described. Seizures and respiratory complications occur in specific subtypes. There is insufficient evidence to determine the efficacy of various treatment interventions to optimize respiratory, orthopedic, and nutritional outcomes, and more data are needed regarding complications. Recommendations: Multidisciplinary care by experienced teams is important for diagnosing and promoting the health of children with CMD. Accurate assessment of clinical presentations and genetic data will help in identifying the correct subtype-specific diagnosis in many cases. Multiorgan system complications occur frequently; surveillance and prompt interventions are likely to be beneficial for affected children. More research is needed to fill gaps in knowledge regarding this category of muscular dystrophies.

Linguistic and cognitive deficits associated with cerebellar mutism

Cerebellar mutism is a period of transient loss of speech following posterior fossa surgery, usually in children under 15 years of age. To date, cases presented in the literature have addressed primarily the motor speech aspect of the phenomenon, with little documentation relative to higher-level linguistic and cognitive functioning of these children. Recent research, however, is increasingly documenting evidence of cerebellar involvement in language and cognition. This paper describes four children, three of whom presented with a period of mutism following posterior fossa surgery, and one who did not exhibit mutism. All children, however, demonstrated a similar profile of significant high-level linguistic and cognitive deficit on formal speech-language and neuropsychological measures. Documented cases to date are reviewed and compared to these subjects. Literature documenting the role of the cerebellum in language and cognition is summarized and compared to evidence of residual deficits associated with cerebellar mutism as demonstrated by the children in this study.

Physical Activity Benefits of Learning to Ride a Two-Wheel Bicycle for Children With Down Syndrome: A Randomized Trial

Background People with Down syndrome (DS) display consistent patterns of physical inactivity. If these sedentary behaviors continue over extended periods of time, there will be negative health consequences. Objective The objective of this study was to investigate the physical activity and health-related outcomes of teaching children with DS to ride a 2-wheel bicycle. Design This study was a randomized intervention in which the control group waited 1 year to receive the intervention. Setting This intervention study was conducted in a community setting. Participants The participants were children who were 8 to 15 years of age and who had been diagnosed with DS. Intervention The participants were randomly assigned to an experimental group (bicycle intervention) or a control group (no intervention). Measurements Measurements were obtained in the month before the intervention (preintervention), at 7 weeks after the intervention, and at 12 months after the preintervention measurement for all participants. Results The results indicated no group differences at the preintervention session. Fifty-six percent of the participants in the experimental group successfully learned to ride a 2-wheel bicycle during the 5-day intervention. Analysis showed that participants who learned to ride spent significantly less time in sedentary activity at 12 months after the preintervention measurement and more time in moderate to vigorous physical activity than participants in the control group. Body fat appeared to be positively influenced over time in participants who learned to ride. Limitations It is unknown how frequently the children in the experimental group rode their bicycles after the intervention. Conclusions Most children who are 8 to 15 years of age and who have been diagnosed with DS can learn to ride a 2-wheel bicycle. Learning to ride can reduce time spent in sedentary activity and increase time spent in moderate to vigorous physical activity, which may influence the health and functioning of these children.

The use of methylphenidate in paediatric traumatic brain injury

Methylphenidate (MPH) has been used safely and effectively for many years in children for the treatment of attention deficit disorder with hyperactivity (ADHD). Behavioural and cognitive sequelae to traumatic brain injury (TBI) have features in common with ADHD, and MPH has been reported to be an effective treatment in adults with TBI. There is little literature documenting the efficacy of MPH in children with TBI. A chart review of 10 children who had sustained TBI and were subsequently treated with MPH was performed. Nine of the cases resulted from motor-vehicle accidents, and one from a fall. The severity of TBI ranged from mild to severe. In eight of the cases, MPH was used for cognitive and behavioural problems, and in two cases it was used to stimulate minimally responsive patients. The introduction of MPH improved cognitive function, behaviour and arousal as measured by parental and teacher reports, evaluation by in-/outpatient rehabilitation team, and/or neuropsychometric testing. MPH appears to be an effective treatment for post-TBI cognitive and behavioural sequelae in children, as well as improving arousal in the minimally responsive brain-injured child. Further prospective research is necessary to clarify the role of MPH in children with TBI.

Amantadine in pediatric patients with traumatic brain injury: a retrospective, case-controlled study.

Green LB, Hornyak JE, Hurvitz EA: Amantadine in pediatric patients with traumatic brain injury: A retrospective, case-controlled study. Am J Phys Med Rehabil 2004;83:893–897. Objective:To determine if amantadine use in pediatric patients with traumatic brain injury is well tolerated and to attempt to assess its effectiveness. Design:This was a retrospective, case-controlled study. Results:Of the 54 patients, aged 3–18 yrs, who were administered amantadine, five (9%) had side effects that might have been related to the drug. These included hallucinations, delusions, increased aggression, and nausea/vomiting. The side effects were reversed when the medication was stopped or the dosage decreased. Patients in the amantadine group had a greater increase in Ranchos Los Amigos level during their admission than those in the control group (median, 3 vs. 2; P < 0.01). This difference may be, at least in part, explained by the fact that the amantadine group started at a lower Ranchos Los Amigos level (median, 3 vs. 4; P < 0.01). There were subjective improvements noted in 29 of the 46 patients (63%) in the amantadine group whose full charts were available for review. Conclusion:Amantadine is a well tolerated medication when it is used in pediatric patients with traumatic brain injury. Subjective improvements were noted in the majority of the patients administered amantadine, and the amantadine group showed a greater improvement in Ranchos Los Amigos level during admission, suggesting that it may be effective.

Bicycle Training for Youth With Down Syndrome and Autism Spectrum Disorders

Children with Down syndrome (DS) and autism spectrum disorders (ASD) frequently have difficulty riding a two-wheel bicycle. The purpose of this study was to investigate an intervention using an adapted bicycle and individualized instruction to teach 71 youth to ride a standard two-wheel bicycle. Youth with DS (n = 30) and ASD (n = 41) between the ages of nine and 18 years took part in this study. After five days of training, 73.3% of children with DS and 85.4% with ASD successfully demonstrated the ability to ride the bicycle more than 100 feet. Leg strength differentiated riders from nonriders in both groups. For the youth with DS, those who learned to ride were significantly older and heavier than those who did not learn to ride. Participants with ASD who learned to ride were significantly taller and stronger than those with ASD who did not learn to ride a two-wheel bicycle. Implications are discussed.

A natural history study of X-linked myotubular myopathy

Objective: To define the natural history of X-linked myotubular myopathy (MTM). Methods: We performed a cross-sectional study that included an online survey (n = 35) and a prospective, 1-year longitudinal investigation using a phone survey (n = 33). Results: We ascertained data from 50 male patients with MTM and performed longitudinal assessments on 33 affected individuals. Consistent with existing knowledge, we found that MTM is a disorder associated with extensive morbidities, including wheelchair (86.7% nonambulant) and ventilator (75% requiring >16 hours of support) dependence. However, unlike previous reports and despite the high burden of disease, mortality was lower than anticipated (approximate rate 10%/y). Seventy-six percent of patients with MTM enrolled (mean age 10 years 11 months) were alive at the end of the study. Nearly all deaths in the study were associated with respiratory failure. In addition, the disease course was more stable than expected, with few adverse events reported during the prospective survey. Few non–muscle-related morbidities were identified, although an unexpectedly high incidence of learning disability (43%) was noted. Conversely, MTM was associated with substantial burdens on patient and caregiver daily living, reflected by missed days of school and lost workdays. Conclusions: MTM is one of the most severe neuromuscular disorders, with affected individuals requiring extensive mechanical interventions for survival. However, among study participants, the disease course was more stable than predicted, with more individuals surviving infancy and early childhood. These data reflect the disease burden of MTM but offer hope in terms of future therapeutic intervention.