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All Posts in Category: Research Articles

IDPAC 2021

Adaptive Level Profile Differences Between Children With Autism Spectrum Disorder (ASD) And Social Communication Disorder (SCD) In Motor And Daily-living-skills (DLS) Domain

SCD is characterized by difficulty in use of communication for social interaction. ASD comprises restrictive/repetitive behaviours with social- communication difficulties. Adaptive levels are the skills needed to function in the society. The present study attempts to examine differences in Motor (overall, gross, fine) and Daily-living-skills (overall, personal-DLS) adaptive skills between ASD and SCD children.

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A rare case of a male child with post-zygotic de novo mosaic variant c.538C>T in MECP2 gene: a case report of Rett syndrome

Rett syndrome (RTT) is characterized by a normal perinatal period with a normal head size at birth followed by normal development for the first 6 months of life followed by gradual deceleration of head growth, loss of acquired purposeful hand skills, severe expressive and receptive language impairment, severe intellectual disability and gait and truncal apraxia/ ataxia. It is caused due to mutations in the MECP2 gene and follows an X-linked dominant mode of inheritance. It was observed exclusively in females and was believed to be lethal in males. In contrast to this belief, several males were identified with RTT upon genetic analysis, however, most males expired by the age of 2 years due to neonatal encephalopathy. The ones that survived beyond the age of 2 years, were attributed to the presence of an extra X chromosome (co-occurrence of Klinefelter and RTT) or the ones having mosaic cell lines. Only 11 males with somatic mosaicism are known till date.

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