DEFINATION:
Down”s syndrome is genetic disorder affecting major developmental domains
EXPLANATION:
Down”s syndrome is the most common cause of mild to moderate mental retardation, physical, medical problems.
It was named after John Langdon Down, the first physician to identify the syndrome. This is the commonest genetic disorder, occurring at conception. It accounts for about 10% of moderate to severe MR children. This disorder is also known as “MONGOLISM”. A diagnosis of Down syndrome may be suspected at birth by physical features but must be confirmed through a karyotyping, or a chromosome study.
Amniocentesis is performed between 12 and 20 weeks gestation.
Chorionic Villus Sampling (CVS) is conducted between 8 and 12 weeks.
Percutaneous Umbilical Blood Sampling (PUBS) is performed after 20 weeks.
Occurs in approximately 1 of 800 live births.
It is usually identified at birth or shortly thereafter. The lifespan of individuals with Down”s syndrome is fifty-five years and older, with many living into their sixties and seventies
ETIOLOGY:
Down Syndrome is a genetic disorder in which there is an extra chromosome .
3 types of Chromosomal Aberrations are seen in Down”s syndrome.
a) Trisomy 21
b) Mosaicism with both normal and trisomic cells present
c) Translocation both chromosome 21 and 15. Thus total number of chromosome is 46, inspite of 3 chromosome at 21. The translocation is inherited with asymptomatic carriers containing only 45 chromosomes.
The incidence of Down syndrome increases with advancing maternal age. However, 80% of children with Down syndrome are born to women under 35 years of age
CLASSIFICATION:
Downs is graded from mild to moderate to severe depending on clinical manifestations
SIGNS AND SYMPTOMS:
Although the severity of Down syndrome ranges from mild to severe, most individuals with Down syndrome have widely recognizable physical characteristics.
These include:
a flattened face and nose, a short neck, a small mouth sometimes with a large, protruding tongue, small ears, upward slanting eyes that may have small skin folds at the inner corner (epicanthal fold);
white spots (also known as Brushfield spots) may be present on the coloured part of the eye (iris);
Development and growth is usually delayed and often average height and developmental milestones are not reached.
Affected muscle tone and loose ligaments are also common .The infant may have poor muscles in the cheeks, lips, and tongue due to hypotonia, which result in a weak suck.
Hyper flexibility -an excessive ability to extend the joints
Atlanto-axial Instability- tendency for dislocation to occur between the first and second cervical vertebrae, which may result in spinal cord damage (happens in sever untreated hypo tonicity)
Microcephaly- small head
Flattened facial profile
Low set ears.
Large tongue in relation to small mouth.
Shock and stocky stature
Protruding abdomen
Cognitive Impairment
Single crease across the palm of the hand ” simian ” crease
Short extremities
Fingers and toes are broad and short
Mental Impairment
ASSOCIATED PROBLEMS:
Down”s syndrome with Respiratory problems
Down”s syndrome with Cardiovascular abnormalities
Down”s syndrome with Obesity
Down”s syndrome with Gastrointestinal problems
Down”s syndrome with Hypothyroidism
Down”s syndrome with Visual deficits (cataracts, strabismus, nystagmus, glaucoma, and refractive errors)
Down”s syndrome with Auditory deficiencies
Down”s syndrome with Immune system insufficiency/increased susceptibility to infections
Down”s syndrome with Increased risk for leukemia
Down”s syndrome with Sleep apnea
MYTHS/QUERIES:
1. Down”s syndrome is not curable.
DR. SUMIT (OCCUPATIONAL THERAPIST): Yes, it is not curable, since it is a genetic disorder it cannot be cured at its root cause, so the above said features might not be cured, and the associated problems need prompt medical management.
2. Down”s syndrome always shows mental sub normality.
DR. SUMIT (OCCUPATIONAL THERAPIST): Yes most of the Down”s syndrome has mental sub normality, which can be treated with appropriate learning program (motor as well as cognitive) and this is important for making an individual capable to lead independent life.
3. If I have down’s baby will my next baby suffer with same?
DR. SUMIT (OCCUPATIONAL THERAPIST): No. Not necessary. A mother with a child with Down syndrome has a one-in-25 chance of recurrence (i.e. only 4 %). Siblings of Down syndrome have the same risk of having a child with Down syndrome as does the general population unless the disorder is of genetic origin.
EARLY DETECTION, A STEP TOWARDS BETTER CURE:
Fortunately down”s syndrome is mostly diagnosed after the child is born. And certain karyotyping tests detect the presence. So early referral is possible and is mandatory for a better development.
PARENTS APPROACH TO DISORDER:
Though Down syndrome can’t be prevented, it can be detected before a child is born. The health problems that can go along with Down”s syndrome can be treated, and there are many resources within communities to help kids and their families living with the condition.