Down Syndrome

Down Syndrome is a genetic disorder caused when abnormal cell division results in extra genetic material from chromosome 21.

It causes a distinct facial appearance, intellectual disability and developmental delays. It may be associated with thyroid or heart disease.

It is also associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. The average IQ of a young adult with Down syndrome is 50, is equal to the mental ability of an 8year-old child

PREVELENCE RATE OF DOWNSYNDROME

The probability increases from less than 0.1% in 20-year-old mothers to 3% in those of age 45. The extra chromosome occurred by chance, with unknown behavioral activity or environmental factor that changes the probability.

Down syndrome is the most common chromosome abnormalities. It occurs in about one per 1,000 babies born each year. In 2015, Down syndrome was present in 5.4 million individuals and resulted in 27,000 deaths, down from 43,000 deaths in 1990

HISTORY OF DOWN SYNDROME

It is named after John Langdon Down, a British doctor who described the syndrome in 1866. Some aspects of the condition were described earlier by Édouard Séguin in 1844. In 1959, the genetic cause of Down syndrome, an extra copy of chromosome 21, was discovered.

SIGNS & SYMPTOMS DOWN SYNDROME

Those with Down syndrome ,always have poor immune function and generally reach developmental milestones at a later age. They have an increased risk of health problems, including congenital heart defect, epilepsy, leukemia, thyroid diseases, and mental disorders.

Physical symptoms are:Stunted growth, low muscle tone or flaccid muscles, narrow roof of mouth, flat head, flexible ligaments, proportionally large tongue, abnormal outer ears, flattened nose and facial profile, abnormal teeth, slanted eyes, shortened hands, short neck with excess skin at the back of the neck, bent fifth finger tip, protruding tongue

Developmental: Delayed development, learning disability, short stature, or speech delay in a child

Eyes: Lazy eye or spots

Also common:: difficulty thinking and understanding, brachycephaly, upslanting palpebral fissures, atlantoaxial instability, hearing loss, low-set ears, mouth breathing, obesity, obstructive sleep apnea, polycythemia, seborrheic dermatitis, single line on palm, thickening of the skin of the palms and soles, or vision disorder

EPIDEMIOLOGY

The risk of having a Down syndrome pregnancy in relation to a mother’s age

Globally, in 2010, Down syndrome occurs in about 1 per 1000 births and results in about 17,000 deaths. About 1.4 per 1000 live births in the United States and 1.1 per 1000 live births in Norway are affected. In the 1950s, in the US, it occurred in 2 per 1000 live births with the decrease due to prenatal screening and abortions. It is the cause of 8% of all congenital disorders.

Maternal age affects the chances of pregnancy with Down syndrome. At age 20, the chance is one in 1441; at age 40, it is one in 84; and at age 50 it is one in 44.] The probability increases with maternal age, 70% of children with Down syndrome are born to women 35 years of age and younger, because younger people have more children. The father’s older age is also a risk factor in women older than 35, but not in women younger than 35, and may partly explain the increase in risk as women age.

WHAT CAUSES DOWN SYNDROME?

Down syndrome is caused by having three copies of the genes on chromosome 21. The parents of the affected individual are genetically normal. Those who have one child with Down syndrome have about a 1% risk of having a second child with the syndrome, if both parents are found to have normal karyotypes.

The most common cause (about 92–95% of cases) is a complete extra copy of chromosome 21, resulting in trisomy 21

Supporting the child with Down syndrome

The key milestones – like walking, talking and crawling – will be slower for the child with Down syndrome.

love and stimulation are the most important influences on your child’s development, so everyday play and communication can help the child a lot.

With family and community support, child with Down syndrome can grow up to be just like anyone else – living in the community, holding down a job and having good relationships with friends and family.

Regular health and development checks will help to spot any issues for your child. Talking to health professionals will help the child

Early intervention services for children with Down syndrome

Early intervention is a systematic program of therapy, exercises and activities designed to address developmental delays that may be experienced by children with Down syndrome or other disabilities. These services are mandated by a federal law called the Individuals with Disabilities Education Act (IDEA).

For Down syndrome, early intervention can make a difference. Through early intervention services, working with professionals to choose therapy options to treat child’s symptoms, support the child, improves outcomes for the child and help him reach to his full potential.

The team of professionals involved in supporting the child includes occupational therapists, speech pathologists, special education teachers and psychologists.

Assessment

The assessment tools which incorporate specific knowledge of the development of children with Down syndrome, alongside assessment for children within the 2’5 years category adapted to the learning profile of children with Down syndrome. These assessment tools currently are:

  • Development Matters in the Early Years Foundation Stage (EYFS)
  • Early Support Developmental Journal for babies and children with Down syndrome

OCCUPATIONAL THERAPY DIAGNOSIS AND TREATMENT

With the diagnosis of Down syndrome benefit from occupational therapy intervention to promote appropriate sensory. motor and cognitive activities with the overall goal to help these children develop motor skills language. skills social skills and self-help skills that encourage the highest level of function

Occupational therapy Assessment in down syndrome child- The child with down syndrome delays in gross motor skills, fine motor skills, cognitive skills, and communication. Occupational Therapist use different formal or informal tests to assess down syndrome child

Down Syndrome Treatment. Down Syndrome cannot be cured. However, early treatment can help many people with Down Syndrome to live productive lives well into adulthood. Children with Down Syndrome can often benefit from speech therapy, occupational therapy, and exercises to help improve their motor skills.