Annals of Rehabilitation Medicine

Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development: Kee-Boem Park, Kyung Eun Nam, Ah-Ra Cho, Woori Jang, Myungshin Kim, Joo Hyun Park; Ann Rehabil Med 2019;43(2):215-223. Published online April 30, 2019; DOI: https://doi.org/10.5535/arm.2019.43.2.215

Abstract
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Objective
To determine effects of copy number variations (CNV) on developmental aspects of children suspected of having delayed development.
Methods
A retrospective chart review was done for 65 children who underwent array-comparative genomic hybridization after visiting physical medicine & rehabilitation department of outpatient clinic with delayed development as chief complaints. Children were evaluated with Denver Developmental Screening Test II (DDST-II), Sequenced Language Scale for Infants (SELSI), or Preschool Receptive-Expressive Language Scale (PRES). A Mann-Whitney U test was conducted to determine statistical differences of developmental quotient (DQ), receptive language quotient (RLQ), and expressive language quotient (ELQ) between children with CNV (CNV(+) group, n=16) and children without CNV (CNV(–) group, n=37).
Results
Of these subjects, the average age was 35.1 months (mean age, 35.1±24.2 months). Sixteen (30.2%) patients had copy number variations. In the CNV(+) group, 14 children underwent DDST-II. In the CNV(–) group, 29 children underwent DDSTII. Among variables, gross motor scale was significantly (p=0.038) lower in the CNV(+) group compared with the CNV(–) group. In the CNV(+) group, 5 children underwent either SELSI or PRES. In the CNV(–) group, 27 children underwent above language assessment examination. Both RLQ and ELQ were similar between the two groups.
Conclusion
The gross motor domain in DQ was significantly lower in children with CNV compared to that in children without CNV. This result suggests that additional genetic factors contribute to this variability. Active detection of genomic imbalance could play a vital role when prominent gross motor delay is presented in children with delayed development.

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Joubert Syndrome with Severe Hypotonia: A case report .: Han, Jae Young , Choi, In Sung , Lee, So Young , Kim, Jae Hyung , Lee, Sam Gyu , Rowe, Sung Man; J Korean Acad Rehabil Med 2001;25(5):883-887.

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Joubert syndrome first described by Joubert et al. in 1969 is a very rare congenital disorder, characterized by episodic hyperpnea, abnormal eye movement, hypotonia, ataxia, and mental retardation. This syndrome generally represents as autosomal recessive inheritance and main neuropathological finding is agenesis or aplasia of the cerebellar vermis. This patient represents significant generalized muscle hypotonia which is not affected by any other tone-modifying maneuvers. And so there is no significant neuromotor improvement with neurodevelopmental treatment such as Bobath method, Vojta method, or proprioceptive nerve facilitation technique and so on. We report the Joubert syndrome showing typical features with delayed development.