Neurodevelopmental profile of Down syndrome in Chinese children

K L Kwong1, V Wong

  • 1University Department of Paediatrics, Queen Mary Hospital, Hong Kong.

Insights

Chinese children with Down syndrome (DS) show similar intellectual disabilities but fewer epilepsy cases compared to other races. Hearing impairment is common, with developmental quotients declining after age five.

Area of Science:

  • Pediatrics
  • Genetics
  • Developmental Neuroscience

Background:

  • Down syndrome (DS) is a genetic disorder associated with intellectual disability and various health complications.
  • Understanding racial variations in DS clinical features and outcomes is crucial for tailored healthcare.
  • Neurodevelopmental outcomes and comorbidities in DS require ongoing investigation across diverse populations.

Purpose of the Study:

  • To evaluate the clinical characteristics of Down syndrome in Chinese children.
  • To assess the neurodevelopmental trajectory and common complications in this cohort.
  • To compare the clinical presentation and outcomes of DS in Chinese children with those of other racial groups.

Main Methods:

  • Retrospective review of medical records for 124 Chinese children diagnosed with Down syndrome.
  • Data collected from the Child Assessment Centre between 1985 and 1993.
  • Analysis focused on clinical features, neurodevelopmental quotients (DQ), epilepsy, and hearing impairment.

Main Results:

  • Microcephaly was present in 31% of patients.
  • Developmental quotients (DQ) above 50 were observed in 85% of infants under one year, decreasing to 29% after age five.
  • Epilepsy occurred in only 1.6% of cases (infantile spasms and Lennox-Gastaut syndrome).
  • Hearing impairment affected 45% of children, with mild conductive hearing loss being most prevalent.

Conclusions:

  • Chinese children with Down syndrome exhibit comparable intellectual disability levels to other racial groups.
  • The incidence of epilepsy appears lower in Chinese children with DS compared to other populations.
  • Hearing impairment is a significant comorbidity, necessitating early detection and management.
Abstract

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...
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...
Three Developmental Domains01:29

Three Developmental Domains

Human development is typically examined across three main domains: physical, cognitive, and socio-emotional. These domains represent the significant areas of change and continuity throughout the lifespan, from infancy to late adulthood.
Physical Development
Physical processes, also known as maturation, encompass the biological changes that occur across an individual's life. These changes begin with genetic inheritance and continue through various stages, including growth in height and weight,...
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...
Alzheimer Disease l: Introduction01:29

Alzheimer Disease l: Introduction

Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...