ABSTRACT
OBJECTIVES: To detail the spectrum of movement disorders (MD) among children with cerebral palsy (CP) and assess impact on functional status. METHODS: In this cross-sectional study, children with CP were recruited and examined for various MDs. Tone abnormality was assessed using Hypertonia Assessment Tool (HAT), functional status using Gross Motor Function Classification System Expanded and Revised (GMFCS E&R), Manual Ability Classification System (MACS), and Communication Function Classification System (CFCS). These scores were classified into mild-moderate (level I-III)/severe (level IV-V) categories. RESULTS: A total of 113 children (mean age 4.9 ± 3.4 y, 66.4% boys) were enrolled. MDs were noted in 52 (46%) children; the most frequent were dystonia (28%), chorea (14%), choreoathetosis (8%). Of 64 children with quadriparetic CP, 27 (42.2%) demonstrated MDs. Of 19 children with hemiparetic CP, 2 (10.5%) had MDs. Of 16 children with dyskinetic CP, 15 (93%) had MDs. Children with dyskinetic CP had significantly higher frequency of MDs (p = 0.001). There was no difference in occurrence of all MDs or dystonia aloneamongst the two categories (mild-moderate/severe) of GMFCS E&R levels, CFCS levels or MACS levels. CONCLUSION: Although diverse MDs occur frequently in CP, these do not correlate with the broad functional status of the child. The study is limited by small sample size.
Subject(s)
Cerebral Palsy , Movement Disorders , Cerebral Palsy/complications , Cerebral Palsy/epidemiology , Child , Child, Preschool , Cross-Sectional Studies , Female , Functional Status , Humans , Infant , Male , Motor Skills , Movement Disorders/diagnosis , Movement Disorders/etiology , Severity of Illness IndexABSTRACT
Multilocus disease-causing genomic variations (MGVs) and multiple genetic diagnoses (MGDs) are increasingly being recognised in individuals and families with Mendelian disorders. This can be mainly attributed to the widespread use of genomic tests for the evaluation of these disorders. We conducted a retrospective study of families evaluated over the last 6 years at our centre to identify families with MGVs and MGDs. MGVs were observed in fourteen families. We observed five different consequences: (i) individuals with MGVs presenting as blended phenotypes (ii) individuals with MGVs presenting with distinct phenotypes (iii) individuals with MGVs with age-dependent penetrance (iv) individuals with MGVs with one phenotype obscured by another more predominant phenotype (v) two distinct phenotypes in different individuals in families with MGVs. Consanguinity was present in eight (8/14, 57.1%) of them. Thirteen families had two Mendelian disorders and one had three Mendelian disorders. The risk of recurrence of one or more conditions in these families ranged from 25% to 75%. Our findings underline the importance of the role of a clinical geneticist in systematic phenotyping, challenges in genetic counselling and risk estimation in families with MGVs and MGDs, especially in highly inbred populations.
