Genetic developmental disability diagnosed in adulthood: a case report

Abstract

Background Developmental disabilities (DD) are an umbrella term for conditions associated with functional impairments in physical, learning, language, or behavior areas. Intellectual disability (ID) is a type of developmental disability that results in delays in cognitive or intellectual functioning, such as reasoning, learning, and problem-solving, and adaptive behaviors including social and practical life skills. DD can be due to a variety of factors, ranging from environmental exposures to genetic mutations, and studies suggest that up to 40% of DDs may be caused by genetic issues. Case presentation In this case study, we present an 18-year-old internationally adopted female Chinese American patient with a known history of developmental delay, intellectual disability, strabismus, and a congenital heart defect who had not been tested for genetic causes of her delay prior to presentation. When evaluated with chromosomal microarray, the patient demonstrated a deletion on the short arm of chromosome 5, an area associated with Cri-du-chat syndrome. This chromosomal deletion was a likely explanation for her history of developmental delays, intellectual disability, and congenital heart defect, in addition to her history of institutionalization and the trauma of multiple caregiver transitions in early childhood. The patient was referred for further evaluation by a geneticist and genetic counselor. Conclusions This case highlights that the underlying cause of developmental delay is often multifactorial, and underscores the importance of a full medical evaluation, including genetic testing, for children with intellectual disability. Using this approach, healthcare professionals can identify potential diagnoses and provide more targeted resources to families.

Integrated Physiotherapeutic Intervention for Rehabilitation of a Patient With Intellectual Disabilities: A Case Report

“…While weight training demonstrates significant physical benefits, engagement in sports activities also enhances both mental and physical health outcomes [ 3 ]. The etiology of intellectual disabilities spans from genetic mutations to environmental factors, with hereditary components implicated in up to 40% of cases [ 4 ]. As per the American Association on Intellectual and Developmental Disabilities, individuals diagnosed with ID display notable restrictions in intellectual capacities (encompassing reasoning, learning, and problem-solving) as well as adaptive behavior (spanning conceptual, social, and practical skills), often emerging prior to reaching adulthood, typically before the age of 18 [ 5 ].…”