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Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Language serves as a bridge between ideas and communication, influencing how individuals perceive and interact with the world. Psychologists have long debated whether language shapes thought or vice versa. This discussion gained grip with Edward Sapir and Benjamin Lee Whorf in the 1940s, who proposed that language determines thought, a concept known as linguistic determinism. They suggested that the vocabulary and structure of a language influence how its speakers think and perceive reality.
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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.
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Communication disorders in the 22Q11.2 microdeletion syndrome.

C B Solot1, C Knightly, S D Handler

  • 1Department of Communication Disorders, The Children's Seashore House of The Children's Hospital of Philadelphia, Pennsylvania 19104, USA.

Journal of Communication Disorders
|July 25, 2000
PubMed
Summary

22q11.2 microdeletion syndrome, a genetic disorder, frequently presents with communication issues like articulation and voice problems. Early identification by speech-language pathologists is crucial for managing these complex developmental features.

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Area of Science:

  • Genetics
  • Pediatrics
  • Speech and Language Pathology

Background:

  • 22q11.2 microdeletion syndrome is increasingly recognized.
  • It is associated with numerous medical and developmental challenges in children.
  • Communication disorders are a common and significant feature.

Purpose of the Study:

  • To describe communicative and developmental characteristics in children with 22q11.2 microdeletion syndrome.
  • To highlight the importance of speech and language pathology awareness.
  • To emphasize a multidisciplinary approach for patient care.

Main Methods:

  • Clinical evaluation of children diagnosed with 22q11.2 microdeletion syndrome.
  • Description of observed communicative and developmental features.
  • Review of diagnostic methods, including fluorescence in situ hybridization.

Main Results:

  • Communication disorders, including articulation, language, resonance, and voice problems, are prevalent.
  • Feeding disorders can also be presenting features of the syndrome.
  • The study details specific communicative and developmental profiles observed in the sample population.

Conclusions:

  • Speech and language pathologists play a vital role in identifying and managing 22q11.2 microdeletion syndrome.
  • Familiarity with the syndrome's characteristics is essential for early intervention.
  • A multidisciplinary approach is necessary for comprehensive treatment of affected children.