Down syndrome

Down syndrome (DS) is a disorder characterized by a recognizable pattern of physical features, specific medical problems and Mental retardation. Children with DS are also known as Mongolian Babies

Incidence

Due to prenatal diagnosis, the incidence of DS has decreased remarkably during the last few decades. As many parents opt to terminate the pregnancy in which the fetus is identified as having DS. The prevalence of DS increases according to the age of the mother. At 20 years of age, women have about 1 in 2000 chance of having a child with DS but at 45 years age, the likelihood increases 1 in 20

Causes

An individual will present with the clinical features of DS when the individual has three copies of critical region in chromosomes number 21. Three types of chromosomal abnormalities lead to DS-


  • Trisomy -( It results from nondisjunction, during meiosis I of the egg)
  • Translocation- ( It is due to the attachment of the long arm of an extra chromosome number 21 to chromosome number 14, 21. or 22 )
  • Mosaicism -( It implies that some but not all cells have the defect, resulting from nondisjunction)



Identification / General features Because of the specific pattern of physical features, infants with DS can be identified fairly early at birth. Children with DS generally have low muscle tone and loose joints. They are also considered as floppy child.

On the basis of Rex and Preus diagnostic criteria, it is very easy to identify an infant with DS at birth. The following phenotype characterisrics are under the index

  • Three palm print patterns ( dermatoglyphic)
  • Brushfield spots ( color speckles in the iris of the eye)
  • ear length
  • internipple distance
  • neck skinfold
  • widely spaced first toes


Associated disorders/ factors

Following are the common associated disorders find with an individual with DS

  • Congenital Heart Disease
  • Sensory impairments
  • Endocrine abnormalities
  • Orthopedic problems
  • Dental problems
  • Gastrointestinal malformation
  • Seizure disorder
  • Hematological disorders
  • Skin abnormalities
  • Sleep disorder



Tests / Assessments

The first and foremost test for all children suspected with DS should be chromosomal analysis. It helps to ensure correct diagnosis and genetic counseling. Apart from this test, the child with DS should be screened for all possible associated disorders.

Managements / treatments The parents of a newborn with DS should be made aware of variety of services like medical intervention, early intervention, and special education program. Along with the medical intervention, early intervention program should be started. Studies have proved the efficacy of early intervention in improving motor and developmental function As there is no cure for DS and the cognitive and medical problems may significantly interferes with a child’s function The Life Cycle Approach should have the following components
  • Medical Management
  • Pediatric Therapy
  • Schooling
  • Vocational Training
  • Job placement


Medical Management


As the child with DS has a number of medical problems, the child requires intensive medical management in the early days. Most children with DS require ongoing medical helps time to time in their life. A few medical problems are corrected or managed completely during the first few years of life. Generally these medical problems require medical attention
  • Congenital Heart Disease
  • Endocrine abnormalities
  • Visual disturbance
  • Hearing deficits
  • Orthopedic problems
  • Dental problems
  • Gastrointestinal malformation
  • Seizure disorder
  • Hematological disorders
  • Skin abnormalities
  • Sleep disorder


Pediatric Therapy

Pediatric therapy is the essential part of developing milestones. During the first year, it is provided in combination form. In combination therapy, an early intervention specialist works with the child to develop all the six child development domains. The early interventionist takes support from different specialists in the holistic management. When the child becomes one year old, the child requires specialized Occupational therapy, Speech therapy and Special education. Generally, children with DS start walking independently by 12 months or so. Due to hypotonic musculature, these children walk with abnormal gait and abnormal foot placement. These children get benefited with special foot orthoses like SMO or SureSteps splint. Children with DS take extra time for speech development. Speech therapy helps these children remarkably.

Special education is an integral part of the cognitive development. Mostly children with DS require the help of special educator till Vocational training. In few children with DS, the special educator needs to work on behavior modification also.

Schooling.

Schooling of children with DS has been controversial issue for a long time. As these children walk independently, they are first to be included in regular set up. But, regular schooling does not help these children so much as it has been thought of. These children require the true integrative approach in schooling.

Vocational Training

Mostly children with DS require vocational training as they can’t go for higher education. Individual with DS who has functional literacy should be encouraged for vocational training.

Job Placement Individuals with DS are considered the best worker in shelter workshop. A few of them can be placed in open market also.



Prognosis The prognosis for a productive and positive life experience for person with DS has increased dramatically during the last four decades. Earlier physicians were hesitating to recommend for life saving cardiac and gastrointestinal surgeries but now mostly physicians refer the family for intensive medical management and early intervention centre. In early days physicians were referring children with DS to be institutionalized but now parents are encouraged to keep the child in the family