The Clinical Evaluation of Patients with Mental Retardation/Intellectual Disability

Research output: Chapter in Book/Report/Conference proceedingChapter


Mental retardation (MR), also known as intellectual dis- ability, is one of the most common neuropsychiatric dis- orders in infants, children and adolescents. Its prevalence in the general population is usually reported in the 1-3% range. Understanding its cause gives important benefits to the patient, his/her family, and the general practitio- ner. There is a diagnostic triad made up of intellectual functioning significantly below the mean, concurrent deficiencies in at least 2 areas of adaptive functioning, and onset before 18 years. This paves the way for MR to be scaled in different degrees and allows the distinction between intellectual and adaptive performance, and between adaptive and maladaptive behaviour. The sug- gested clinical approach comprises 6 main steps: 1) Fam- ily history, 2) personal history, 3) physical examination, clinical diagnosis, 5) imaging and laboratory diagnos- tics, 6) diagnostic synthesis and follow-up. New technol- ogies, such as array comparative genomic hybridisation (aCGH), are currently making a huge impact, shifting in many instances from a phenotype-first to a genotype-first approach. This emphasizes the need for a close collabora- tion between clinicians and laboratory professionals. The aim of clinical evaluation is to provide the best care for the patient, which relies on habilitation and counselling for his/her family.

Original languageEnglish
Title of host publicationGenetics of Mental Retardation: An Overview Encompassing Learning Disability and Intellectual Disability
PublisherS. Karger AG
Number of pages10
ISBN (Print)9783805592819, 9783805592802
Publication statusPublished - Feb 15 2010

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)


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