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Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
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Learning disabilities are cognitive disorders caused by neurological impairments that affect cognitive functions like language and reading, without indicating overall intellectual or developmental challenges. These disabilities differ from global intellectual or developmental disabilities as they are limited to distinct cognitive functions. Common learning disabilities include dysgraphia, dyslexia, and dyscalculia, each of which impacts unique aspects of learning.
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Genetic developmental disability diagnosed in adulthood: a case report.

Adam Langenfeld1, Lynn Schema2, Judith K Eckerle3

  • 1Division of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, 717 Delaware Street SE, Minneapolis, MN, 55414, USA. lang0650@umn.edu.

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Genetic testing revealed a chromosome 5 deletion in an adopted teen with developmental delays and intellectual disability. This finding highlights the importance of genetic evaluation for complex developmental conditions.

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Chromosome 5Cri-du-chat syndromeDevelopmental disabilityGenetic testingIntellectual disability

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Area of Science:

  • Genetics
  • Developmental Pediatrics
  • Medical Case Studies

Background:

  • Developmental disabilities (DD) encompass impairments in physical, learning, language, or behavior.
  • Intellectual disability (ID) involves delays in cognitive and adaptive functioning.
  • Genetic factors may account for up to 40% of developmental disabilities.

Observation:

  • An 18-year-old adopted female presented with developmental delay, intellectual disability, strabismus, and congenital heart defect.
  • Chromosomal microarray identified a deletion on the short arm of chromosome 5.
  • This deletion is associated with Cri-du-chat syndrome.

Findings:

  • The chromosome 5 deletion likely explains the patient's developmental delays, intellectual disability, and congenital heart defect.
  • Environmental factors like institutionalization and caregiver transitions may also contribute.
  • Genetic testing is crucial for diagnosing the underlying causes of developmental disabilities.

Implications:

  • This case underscores the multifactorial nature of developmental delay.
  • Comprehensive medical evaluations, including genetic testing, are vital for children with intellectual disability.
  • Identifying genetic causes enables targeted resources and support for affected families.