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Related Concept Videos

Learning Disabilities01:25

Learning Disabilities

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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Multimodal Protocol for Assessing Metacognition and Self-Regulation in Adults with Learning Difficulties
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Trichothiodystrophy in a child with occult learning disorder.

Hazel H Oon1, Agnes Wai Sze Chan, Joyce Siong See Lee

  • 1National Skin Centre, Dermatology Hospital, Singapore.

International Journal of Trichology
|August 21, 2013
PubMed
Summary

Trichothiodystrophy (TTD) causes brittle hair due to DNA repair gene mutations. Early diagnosis of learning disorders in TTD patients is crucial for timely educational support.

Keywords:
Brittle hairlearning disordernucleotide excision repair disease trichothiodystrophy

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Area of Science:

  • Genetics
  • Molecular Biology
  • Pediatrics

Background:

  • Trichothiodystrophy (TTD) is an autosomal recessive disorder.
  • Characterized by brittle, sparse, sulfur-deficient hair.
  • Often linked to mutations in DNA nucleotide excision repair (NER) genes.

Observation:

  • A 13-month-old female infant presented with hair fragility and loss.
  • Symptoms began around 3 months of age.
  • The case highlights TTD's overlap with other NER-related disorders.

Findings:

  • Genetic mutations in NER pathways are implicated in up to 83% of TTD cases.
  • The described case underscores the phenotypic variability and genetic underpinnings of TTD.
  • Early identification of learning disabilities is critical for affected children.

Implications:

  • Emphasizes the need for early developmental and learning assessments in infants with TTD.
  • Highlights the importance of a multidisciplinary team approach for managing TTD.
  • Facilitates targeted educational interventions for children with TTD and associated learning disorders.