Current perspectives on Down syndrome: selected medical and social issues.
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Child↗
Biomedical subjects
Gordon Worley
Publications and source records attributed to Gordon Worley.
Growth and health in children with moderate-to-severe cerebral palsy.
BACKGROUND: Children with cerebral palsy frequently grow poorly. The purpose of this study was to describe observed growth patterns and their relationship to health and social participation in a representative sample of children with moderate-severe cerebral palsy. METHODS: In a 6-site, multicentered, region-based cross-sectional study, multiple sources were used to identify children with moderate or severe cerebral palsy. There were 273 children enrolled, 58% male, 71% white, with Gross Motor Function Classification System levels III (22%), IV (25%), or V (53%). Anthropometric measures included: weight, knee height, upper arm length, midupper arm muscle area, triceps skinfold, and subscapular skinfold. Intraobserver and interobserver reliability was established. Health care use (days in bed, days in hospital, and visits to doctor or emergency department) and social participation (days missed of school or of usual activities for child and family) over the preceding 4 weeks were measured by questionnaire. Growth curves were developed and z scores calculated for each of the 6 measures. Cluster analysis methodology was then used to create 3 distinct groups of subjects based on average z scores across the 6 measures chosen to provide an overview of growth. RESULTS: Gender-specific growth curves with 10th, 25th, 50th, 75th, and 90th percentiles for each of the 6 measurements were created. Cluster analyses identified 3 clusters of subjects based on their average z scores for these measures. The subjects with the best growth had fewest days of health care use and fewest days of social participation missed, and the subjects with the worst growth had the most days of health care use and most days of participation missed. CONCLUSIONS: Growth patterns in children with cerebral palsy were associated with their overall health and social participation. The role of these cerebral palsy-specific growth curves in clinical decision-making will require further study.
Adolescent↗
Serum prealbumin and albumin concentrations do not reflect nutritional state in children with cerebral palsy.
Serum prealbumin concentration (PALB) and albumin concentration (ALB) were evaluated as markers of undernutrition in 107 children with cerebral palsy (CP) age 2 to 18 years. PALB and ALB were rarely below the normal reference ranges and showed little to no correlation with anthropometric measures (eg, skinfolds, midarm fat area), growth (height), severity of CP (eg, feeding dysfunction, motor impairment), or general health.
Adolescent↗
Apolipoprotein E and brain injury: implications for children.
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Adult↗
Altered skeletal maturation in moderate to severe cerebral palsy.
Abnormalities of growth and development are prevalent in children with cerebral palsy (CP). The purpose of this study was to assess skeletal maturation ('bone age') in this population and to identify those factors related to alterations in this aspect of development. The study group was a convenience sample of 80 participants (47 males, 33 females; age range 2 y 6 mo to 21 y 1 mo; mean age 10 y 10 mo, SD 4 y 2 mo). All had moderate to severe spastic or mixed spastic CP at Gross Motor Function Classification System level III (n=8, 10%); level IV (n=21, 26%); or level V (n=51, 64%). Skeletal maturation was assessed by the detailed Fels method of scoring hand-wrist radiographs. Each evaluation included clinical and anthropometric assessments, Tanner staging, bone density measurements, and the Children's Health Status Questionnaire. Follow-up evaluations were obtained for 41 participants, providing a total of 143 evaluations. Median interval between first and last evaluations was 24.7 months (range 11.9 to 45mo). For the study group as a whole there was no significant difference between a child's skeletal age and chronological age. However, there was a high prevalence of individual participants in whom skeletal age was advanced (7%) or delayed (10%), relative to chronological age, by more than 2 years. In multivariant analyses it was found that diminished linear growth (height), low lumbar-spine bone density, and low body fat as measured by triceps skinfolds were all independently associated with delays in skeletal maturation. Multiple aspects of skeletal growth and development, including skeletal maturation, are frequently altered in children with moderate to severe CP.
Absorptiometry, Photon↗
New onset focal weakness in children with Down syndrome.
New onset focal weakness is relatively common in patients with Down syndrome (DS), and has broad differential diagnosis. Ten cases of new onset focal weakness in patients with DS were encountered or are currently being followed in two DS clinics, with a combined population of patients of approximately 850, for a clinic population prevalence of 1.2%. The median age at presentation was 4 years old (range 1 month-44 years). The causes of new onset focal weakness were: stroke from Moyamoya disease (two patients); stroke from vaso occlusive disease (one patient); stroke from venus sinus thrombosis (one patient); traumatic subdural hematoma (one patient); brain abscess (one patient); spinal cord injury (SCI) from cervical spinal stenosis (two patients); SCI from atlantoaxial instability (AAI) (one patient); and brachial plexus injury (one patient). Of the 10 patients with focal weakness, 8 had potentially treatable conditions, and 5 had surgery. The differential diagnosis of new onset focal weakness in DS is broad, with diseases reported involving all levels of the nervous system from brain to muscle. For some diagnoses, expeditious diagnosis may improve outcome.
Adolescent↗
Hypothyroidism in Down syndrome: screening guidelines and testing methodology.
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Adult↗
Laryngeal dystonia causing inspiratory stridor in children with cerebral palsy.
SUMMARY: OBJECTIVE To present three cases of inspiratory stridor caused by laryngeal dystonia (LD) in children with cerebral palsy (CP), one of whom is being treated by periodic botulinum toxin type A (BTX) injection into a vocalis muscle, thereby avoiding tracheostomy. STUDY DESIGN Case series. RESULTS AND CONCLUSIONS Laryngeal dystonia was diagnosed in three children with CP who presented with inspiratory stridor associated with generalized dystonia, all of whom were thought previously to have had laryngomalacia. The inspiratory stridor was severe enough in one patient that a tracheostomy was planned. In common with the movement disorder of generalized dystonia, the inspiratory stridor caused by LD was present in our patients when they were awake, worse when they were excited or agitated, diminished when they were awake and calm, and absent when they were asleep. Although there is overlap between the symptoms of LD and laryngomalacia (and other structural causes of upper airway obstruction) in children with CP, structural causes result in inspiratory stridor that is often persistent when patients are awake and relaxed or when they are asleep. Fiberoptic laryngoscopy in an awake patient with LD reveals vocal cord adduction in inspiration causing inspiratory stridor in association with generalized dystonia. Baclofen and gabapentin used together relieved the inspiratory stridor and improved the generalized dystonia of two patients, confirming the clinical diagnosis of LD, but for the last 2 years the third patient (the one with the most severe inspiratory stridor) also has required a periodic BTX injection into a vocalis muscle (the major vocal cord adductor) to relieve her inspiratory stridor, alternating the side of injection. Her mother considers this is a small price to pay to avoid tracheostomy. This is the first report of LD causing inspiratory stridor in patients with CP and the first reported use of BTX injection into a vocalis muscle for relief of inspiratory stridor due to LD in a child.
Botulinum Toxins, Type A↗
A new look at meningomyeloceles.
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Cross-Sectional Studies↗
Hypothyroidism in house officers.
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Adult↗
T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families.
We investigated the T locus as a candidate gene in a series of patients and families with lumbosacral myelomeningocele. Single-strand conformation polymorphism (SSCP) analysis was used to identify sequence variation in all 8 exons and in intron 7 of this locus. We found evidence of substantial polymorphism within this locus, as previously reported [Papapetrou et al., 1999, J Med Genet 36:208-213], and moderately significant evidence of linkage disequilibrium with the CacI polymorphism of exon 8. However, when the locus was considered as a whole, with all single nucleotide polymorphisms (SNPs) integrated into a haplotype, there was no evidence for linkage disequilibrium. In addition, we did not identify any new sequence variants. Thus, we conclude that the T locus is not a major locus for human NTDs in this sample.
Alleles↗
Feeding dysfunction is associated with poor growth and health status in children with cerebral palsy.
OBJECTIVE: To describe parent-reported feeding dysfunction and its association with health and nutritional status in children with cerebral palsy. DESIGN: Anthropometry was measured and z scores calculated. The Child Health Questionnaire was used to assess health status, and a categorical scale (none to severe) was used to classify subjects according to severity of feeding dysfunction. SUBJECTS: 230 children (9.7+/-4.6 years; 59% boys) with moderate to severe cerebral palsy were recruited from 6 centers in the United States and Canada. STATISTICAL ANALYSES: Descriptive statistics, the Kruskal-Wallis and Pearson chi2 tests. RESULTS: Severity of feeding dysfunction was strongly associated with indicators of poor health and nutritional status. The mean weight z scores were -1.7, -2.5, -3.3, and -1.8 among children with none, mild, moderate, or severe (largely tube-fed) feeding dysfunction, respectively (P= .003). Similar results were observed for height z score (P=.008), triceps z score (P=.03), and poor Global Health score (part of the Child Health Questionnaire) (P<.001). Subjects who were tube fed were taller (P=.014) and had greater body fat stores (triceps z score, P=.001) than orally fed subjects with similar motor impairment. For subjects exclusively fed by mouth, a dose-response relationship was observed between feeding dysfunction severity and poor nutritional status. Subjects with only mild feeding dysfunction had reduced triceps z score (-0.9) compared with those with no feeding problems (-0.3). CONCLUSION: For children with moderate to severe cerebral palsy, feeding dysfunction is a common problem associated with poor health and nutritional status. Even children with only mild feeding dysfunction, requiring chopped or mashed foods, may be at risk for poor nutritional status. Parental report of feeding dysfunction with a structured questionnaire may be useful in screening children for nutritional risk.
Adolescent↗
Relationship of nutritional status to health and societal participation in children with cerebral palsy.
OBJECTIVES: To describe nutritional status in a population-based sample of children with moderate or severe cerebral palsy (CP) and to explore the relationships between nutritional status and health and functional outcomes. STUDY DESIGN: A population-based strategy was used to enroll children with CP at 6 geographic sites. Research assistants performed anthropometric assessment, determined severity of motor impairment, and interviewed caregivers with the Child Health Questionnaire and a questionnaire designed specifically for this study. Anthropometric measures were converted to Z scores and the relationship between health and nutritional status was assessed using regression models. RESULTS: Among the 235 participants, indicators of malnutrition were common. Poor nutritional status correlated with increased health care utilization (hospitalizations, doctor visits) and decreased participation in usual activities by the child and parent. CONCLUSIONS: Malnutrition is common in children with moderate or severe CP and associated with poorer health status and limitations in societal participation. Further studies are needed to determine the nature of these associations and how to manage nutrition in children with CP to optimize growth and health outcomes.
Absenteeism↗
Bone density and metabolism in children and adolescents with moderate to severe cerebral palsy.
OBJECTIVES: Diminished bone density and a propensity to fracture with minimal trauma are common in children and adolescents with moderate to severe cerebral palsy (CP). The purpose of this study was to provide a detailed evaluation of bone mineral density (BMD) and metabolism in this population and to assess the relationship of these measures to multiple other clinical, growth, and nutrition variables. METHODS: The study group consisted of 117 subjects ages 2 to 19 years (mean: 9.7 years) with moderate to severe CP as defined by the Gross Motor Functional Classification scale. Population-based sampling was used to recruit 62 of the participants, which allows for estimations of prevalence. The remaining 55 subjects were a convenience sampling from both hospital- and school-based sources. The evaluation included measures of BMD, a detailed anthropometric assessment of growth and nutritional status, medical and surgical history, the Child Health Status Questionnaire, and multiple serum analyses. BMD was measured in the distal femur, a site specifically developed for use in this contracted population, and the lumbar spine. BMD measures were converted to age and gender normalized z scores based on our own previously published control series (n > 250). RESULTS: Osteopenia (BMD z score <-2.0) was found in the femur of 77% of the population-based cohort and in 97% of all study participants who were unable to stand and were older than 9 years. BMD was not as low in the lumbar spine (population-based cohort mean +/- standard error z score: -1.8 +/- 0.1) as in the distal femur (mean z score: -3.1 +/- 0.2). Fractures had occurred in 26% of the children who were older than 10 years. Multiple clinical and nutritional variables correlated with BMD z scores, but interpretation of these findings is complicated by covariance among variables. In stepwise regression analyses, it was found that severity of neurologic impairment as graded by Gross Motor Functional Classification level, increasing difficulty feeding the child, use of anticonvulsants, and lower triceps skinfold z scores (in decreasing order of importance) all independently contribute to lower BMD z scores in the femur. CONCLUSIONS: Low BMD is prevalent in children with moderate to severe CP and is associated with significant fracture risk. The underlying pathophysiology is complex, with multiple factors contributing to the problem and significant variation between different regions of the skeleton.
Adolescent↗
Secondary sexual characteristics in children with cerebral palsy and moderate to severe motor impairment: a cross-sectional survey.
OBJECTIVES: To compare the development of secondary sexual characteristics in children with cerebral palsy (CP) of moderate to severe motor impairment to children in the general population and to relate their sexual maturation to a measure of their body fat. METHODS: A multicenter, cross-sectional survey of 207 children who were 3 to 18 years of age and had CP of moderate to severe motor impairment (Gross Motor Functional Classification System [GMFCS] levels 3, 4, and 5) was conducted at 6 geographic sites; attempts were made to identify all eligible children through multiple methods and enroll them in the study. Trained research assistants performed anthropometric measurements, including subscapular skinfold thickness, determined GMFCS level, and assessed sexual maturation by Tanner stage. Secondary sexual characteristics were compared with the general population of children using cross-sectional surveys of the American Academy of Pediatrics Pediatric Research in Office Settings network and of the National Center for Health Statistics National Health and Nutrition Examination Survey (NHANES) III. Girls were classified as having begun puberty when they were at Tanner stage 2 or greater for pubic hair and breast development and to have completed puberty when they were at Tanner stage 4 or greater for pubic hair and breast development. Boys were classified as having begun puberty when they were at Tanner stage 2 or greater for pubic hair and genital development and to have completed puberty when they were at Tanner stage 4 or greater for pubic hair and genital development. RESULTS: The mean age (standard deviation) of subjects was 9.6 (4.6) years. Of the 207 subjects, 71% were white, 21% were black, and 8% were of other races; 59% were boys, and 41% were girls. Girls with CP (n = 84) entered puberty earlier than did boys with CP (n = 123). In contrast, girls with CP tended to complete puberty later than did boys with CP. Black boys and girls with CP (n = 43) entered puberty earlier than did white boys and girls with CP (n = 147). No difference between races was found in completion of puberty. Only for white children with CP were there a sufficient number of subjects for comparisons of sexual maturation to race-matched children in the general population, using data from the American Academy of Pediatrics Pediatric Research in Office Settings network and the NHANES III study. White girls with CP initiated pubic hair development (Tanner stage 2 or greater) earlier than in the general population, but the age of onset of breast development was similar to the general population, although the age distribution was different. A greater proportion of white girls with CP had early onset of breast development (Tanner stage 2 or greater), and a greater proportion had delayed onset of breast development than in the general population. White girls with CP completed breast development later than in the general population but not pubic hair development. For white boys ages 8 to 18 years with CP (n = 75), pubic hair and genital development both began earlier than in the general population, but genital development was completed later. The estimated median age of menarche for white girls with CP was 14.0 years, which was 1.3 years later (95% confidence interval: 0.7-2.3) than for the general population (estimated median age: 12.8 years; NHANES III). Relationships between sexual maturation and nutritional state, as assessed by subscapular skinfold thickness z score, were determined separately in white boys and in white girls with CP, between the ages of 8 and 18 years. For white girls with CP, more advanced sexual maturation was associated with more body fat, adjusting for age and GMFCS level (Spearman partial correlation: 0.41). In contrast, for white boys with CP, the opposite relationship pertained: more advanced sexual maturation was associated with less body fat (-0.29). CONCLUSIONS: The pattern of sexual maturation in children with CP of moderate to severe motor impairment differs from that of children in the general population. Puberty begins earlier but ends later in white children with CP, compared with white children in the general population. In addition, menarche occurs later in white girls with CP. More advanced sexual maturation was associated with more body fat in girls but less body fat in boys.
Adolescent↗
Fracture rate in children with cerebral palsy.
OBJECTIVES: To determine the prevalence of previous fracture, the rate of fracture over time and associated risk factors for fracture in children with moderate or severe cerebral palsy (CP). STUDY DESIGN: Three hundred and sixty-four children with moderate-to-severe motor impairment (Gross Motor Function Classification System III, IV and V) enrolled in a multi-centre, region-based longitudinal study of growth, nutrition and health. Of these, 297 had baseline fracture information and 261 children had at least one follow-up assessment. Median duration of follow-up was 1.6 years, for over 600 person-years of follow-up. RESULTS: Forty-six (15.5%) children reported 62 previous fractures at baseline assessment. Children with a history of fractures at baseline were older (mean age 11.9 vs. 8.9 years, p<0.0001) and had greater body fat (triceps z-score -0.01 vs. -0.68, p=0.0003) than children with no previous fracture. Twenty children (6.7%) reported 24 fractures during the follow-up period. Factors associated with risk of fracture during the follow-up period were higher body fat (p=0.03), gastrostomy use (p=0.05) and previous fracture (p=0.10). Based on 24 fractures in 604.5 person-years of follow-up, the rate of fracture was 4.0 per hundred children (4.0%) per year. For children with a history of fracture at baseline, the fracture rate was 7.0% per year; for children with gastrostomy, 6.8% per year; and for children with high triceps skinfold, 9.7% per year. CONCLUSIONS: Children with moderate or severe CP are at high risk for fracture. Children with greater body fat, feeding gastrostomy and prior history of fracture are at highest risk and may benefit most from intervention. Further longitudinal study and clinical trials in children with CP are needed to better understand the factors contributing to fracture risk in this population and the best methods of prevention and treatment.
Adolescent↗