Neurocognitive functioning of a child with partial trisomy 6 and monosomy 21

Jennifer M Katzenstein1, John S Oghalai, Ross Tonini

  • 1Indiana University-Purdue University, Indianapolis, IN, USA.

Neurocase
|January 28, 2009
PubMed

Insights

This case study examines a child with trisomy 6 and monosomy 21 genetic abnormalities and profound hearing loss. Cochlear implantation showed some skill improvement, though oral language development remains limited.

Area of Science:

  • Genetics
  • Neuroscience
  • Audiology

Background:

  • A child with trisomy 6 and monosomy 21 genetic abnormalities was evaluated for profound sensorineural hearing loss.
  • The evaluation was part of the standard medical protocol for cochlear implantation.

Observation:

  • Neurocognitive testing was performed before cochlear implantation and 12 months after activation.
  • The child presented with limited oral language development.

Findings:

  • Post-cochlear implant activation, the child demonstrated improvement in overall neurocognitive skills.
  • The observed skill improvement was less than what is typically expected for a developing child.

Implications:

  • Cochlear implantation may offer benefits for neurocognitive development in children with complex genetic abnormalities and hearing loss.
  • Further research is needed to understand the long-term neurocognitive outcomes and optimize interventions for this population.

Related Concept Videos

Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
Language and Cognition01:27

Language and Cognition

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.
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Information Processing Approach01:30

Information Processing Approach

The information-processing theory of cognitive development centers on fundamental mental processes, including attention, memory, and problem-solving skills. Researchers in this field examine how cognitive abilities, such as working memory, evolve and influence children's overall development. Studies indicate that children with stronger working memory tend to excel in reading comprehension, math, and problem-solving compared to peers with less efficient memory skills. Low working memory is also...
Attention-Deficit/Hyperactivity Disorder01:30

Attention-Deficit/Hyperactivity Disorder

Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent inattention, hyperactivity, and impulsivity. It affects approximately 5-8% of children globally, with around 60-70% of cases persisting into adulthood. ADHD has significant implications for educational attainment, social interactions, and occupational success.
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings.
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...