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Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Intellectual Disability01:29

Intellectual Disability

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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Serum Laboratory Studies, Stool Test, Breath Test

Gastrointestinal (GI) diagnostic studies are pivotal in confirming, ruling out, diagnosing, or staging various diseases, including cancers. Following diagnosis, allocating time for discussions with the patient and providing informational resources is crucial. Diagnostic assessments of the GI tract often occur in outpatient settings like endoscopy suites or GI labs. Preparation for these tests may include dietary restrictions, fasting, liquid bowel preparations, laxatives, enemas, and the...
Myasthenia Gravis: Diagnostic Tests01:15

Myasthenia Gravis: Diagnostic Tests

Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
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Radiological Investigation I: X-ray and CT

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 the...

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Related Experiment Video

Updated: May 25, 2026

Measuring the Functional Abilities of Children Aged 3-6 Years Old with Observational Methods and Computer Tools
11:29

Measuring the Functional Abilities of Children Aged 3-6 Years Old with Observational Methods and Computer Tools

Published on: June 20, 2020

[Diagnostic investigations for an unexplained developmental disability].

A Verloes1, D Héron, T Billette de Villemeur

  • 1Département de génétique, CHU Robert-Debré, 48, boulevard Sérurier, 75019 Paris, France. alain.verloes@rdb.aphp.fr

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|January 17, 2012
PubMed
Summary

This study updates diagnostic protocols for developmental disabilities, recommending advanced genetic tests like array CGH and targeted metabolic screening for better identification of rare causes.

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A Novel Experimental and Analytical Approach to the Multimodal Neural Decoding of Intent During Social Interaction in Freely-behaving Human Infants
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Published on: October 4, 2015

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Last Updated: May 25, 2026

Measuring the Functional Abilities of Children Aged 3-6 Years Old with Observational Methods and Computer Tools
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Published on: June 20, 2020

A Novel Experimental and Analytical Approach to the Multimodal Neural Decoding of Intent During Social Interaction in Freely-behaving Human Infants
11:14

A Novel Experimental and Analytical Approach to the Multimodal Neural Decoding of Intent During Social Interaction in Freely-behaving Human Infants

Published on: October 4, 2015

Area of Science:

  • Genetics and Genomics
  • Developmental Neuroscience
  • Pediatric Medicine

Context:

  • Developmental disability is a significant public health concern with diverse etiologies.
  • Previous diagnostic strategies for mental retardation are evolving with new molecular technologies.
  • Reference centers for rare diseases have updated investigation protocols for nonsyndromal mental disability.

Purpose:

  • To provide an updated, evidence-based protocol for investigating nonsyndromal mental disability.
  • To integrate recent advancements in genetics, genomics, and metabolic diagnostics.
  • To guide clinicians in selecting appropriate diagnostic tests based on availability and clinical presentation.

Summary:

  • Recommends array comparative genomic hybridization (CGH) as a primary diagnostic tool when available.
  • Suggests a combination of karyotype, MLPA, fragile X screening, and targeted metabolic tests (CDG, thyroid hormone carrier deficiency, creatine metabolism deficiency) if array CGH is not feasible.
  • Recommends MRI only in specific clinical scenarios such as abnormal head size, neurological findings, regression, or severe developmental delay.

Impact:

  • Facilitates earlier and more accurate diagnosis of the underlying causes of developmental disabilities.
  • Improves patient management and genetic counseling by identifying specific genetic and metabolic etiologies.
  • Contributes to a more efficient and cost-effective diagnostic pathway for rare developmental disorders.