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Related Concept Videos

Intellectual Disability01:29

Intellectual Disability

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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 Disabilities01:25

Learning Disabilities

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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 the ever-evolving field of public health, statistical analysis serves as a cornerstone for understanding and managing disease outbreaks. By leveraging various statistical tools, health professionals can predict potential outbreaks, analyze ongoing situations, and devise effective responses to mitigate impact. For that to happen, there are a few possible stages of the analysis:
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Radiological Investigation I: X-ray and CT01:30

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Radiological investigations, including X-rays and computed tomography (CT) scans, are critical for diagnosing and evaluating various medical conditions. These imaging techniques provide valuable insights into the body's internal structures, aiding in the detection of abnormalities, assessment of disease progression, and development of treatment strategies. This article delves into two primary radiological investigations, chest X-rays and CT scans, outlining their purpose, procedures, and...
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Radiological Investigation II: MRI and Ventilation Perfusion Scan01:30

Radiological Investigation II: MRI and Ventilation Perfusion Scan

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Description
Magnetic Resonance Imaging (MRI) and Ventilation Perfusion Scans are two radiological investigations that offer detailed diagnostic images of the body, particularly lung structures.
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Radiological investigations are paramount in the diagnosis and management of various pulmonary diseases. Two essential investigations are the Pulmonary Angiogram and the Positron Emission Tomography (PET) Scan.
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Related Experiment Video

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Assessing the Coherence of Parents' Short Narratives Regarding their Child Using the Five-Minute Speech Sample Procedure
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Investigating the child with intellectual disability.

David J Amor1,2

  • 1Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

Journal of Paediatrics and Child Health
|October 9, 2018
PubMed
Summary

Genetic testing advances now diagnose intellectual disability in half of children, identifying new syndromes and de novo gene variants. Early genomic testing is cost-effective for diagnosis.

Keywords:
chromosome microarrayfragile X testinggenetic diagnosisintellectual disabilityurine metabolic screening

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Area of Science:

  • Medical Genetics
  • Developmental Pediatrics
  • Genomic Medicine

Background:

  • Diagnosing the cause of intellectual disability (ID) is crucial for affected children.
  • Historically, etiological diagnoses were rare, but recent advancements have significantly improved diagnostic yield.

Purpose of the Study:

  • To highlight the impact of recent technological advancements on diagnosing intellectual disability.
  • To underscore the importance of genetic testing in identifying the causes of ID.

Main Methods:

  • Utilizing advanced genetic testing technologies, including chromosome microarray and whole exome sequencing.
  • Analyzing data from clinical assessments and genetic analyses of children with intellectual disability.

Main Results:

  • Genetic testing now enables a specific diagnosis in approximately 50% of children with intellectual disability.
  • These advances have identified numerous novel genetic syndromes and highlighted de novo pathogenic gene variants as a major cause of severe ID.

Conclusions:

  • Modern genomic testing dramatically increases the diagnostic rate for intellectual disability.
  • Early implementation of genomic testing is recommended for cost-effectiveness in patient diagnostic journeys.