Downs Syndrome

INTRODUCTION:-

Down syndrome, also called as the trisomy 21, is a chromosomal disorder caused by the presence of all or part of an extra 21st chromosome.

Down syndrome (DS) is a condition in which extra genetic material causes delays in the way a child develops, and often leads to mental retardation.

RISK FACTORS FOR DOWN’S SYNDROME:

Since the Down’s syndrome is related to the genes, the following are a few risk factors:

Carrier Parents for the genetic translocation for Down syndrome: Both men and women can pass the genetic translocation for Down syndrome on to their children.

Mothers who already have one child with Down syndrome.

  • Advancing maternal age: As a woman’s eggs age, there’s a greater inclination for chromosomes to divide improperly. So a woman’s chances of giving birth to a child with Down syndrome increase with age.
  • Growth and development in Down’s syndrome: Growth retardation starts in utero and continues throughout the developmental years. The syndrome is often associated with moderate intellectual disability which confers a mental age of 5–7 years.
    At school age the average IQ, which is an indication of mental performance alone, is 48 (range 20–79). Most of the times, the impaired ability to comprehend and express language in a spoken form often impairs the patient’s ability to describe symptoms. This hampers the diagnosis of many anatomical or functional impairments, diseases or disabilities.

CLINICAL FEATURES:

The clinical features affecting the head and neck in Down’s syndrome are:

  • Abnormal teeth
  • Brushfield spots
  • Brachycephaly
  • Epicanthic folds
  • Excessive skin at nape of the neck
  • Flat nasal bridge
  • Folded or dysplastic ears
  • Furrowed tongue
  • Narrow palate
  • Open mouth
  • Protruding tongue
  • Short neck
  • Small ears
  • Up slanting palpebral fissures

The clinical features affecting the extremities in Down’s syndrome are:

  • Hypoplastic mid phalanx of fifth finger
  • Hyper flexibility of joints
  • Incurved fifth finger
  • Space between the first and second toes (sandal gap deformity)
  • Short broad hands
  • Transverse palmar crease

Neurological and psychiatric illnesses:

  • Epileptic seizures: considered an independent risk factor associated with increased mortality.
  • Infantile spasms
  • Dementia
  • Depression

Individuals with Down syndrome tend to have a lower than average cognitive ability, often ranging from mild to moderate learning disabilities. A small number have severe to profound mental disability.

Mental retardation in the mild (IQ 50–70) to moderate (IQ 35–50) range, with individuals having Mosaic Down syndrome typically 10–30 points higher. In addition, individuals with Down syndrome can have serious abnormalities affecting any body system.

GENERAL PHYSIOLINE’S REHABILITATION GUIDELINES:

Down syndrome is characterized by slow and permanently delayed development at all levels of functioning. The significance of the delayed development as regards independent living, of both children and adults, ranges from mild handicap to a continuous need for support. Rehabilitation must be planned individually by a multidisciplinary workgroup. There is no specific rehabilitation programme suitable for all.

  • Physioline’s Specialised Physiotherapy in Down’s syndrome: Physiotherapy at Physioline aims at a milestone development at a quicker pace. The physioline Physiotherapists use a various stimulatory techniques, manipulation and equipment for strengthening, preventing deformities, improving motor skills and gait and monitoring the child’s endurance status.
    Since the Down’s syndrome child is born with loose and floppy muscles, and a mentally retarded attitude, it is essential that pt b provided as soon as possible to strengthen the body muscles. This is necessary so that the child will have the required stimulation to enhance the growth of bones and muscles.
  • Speech therapy:Due to mentally retarded attitude of the child, the ability of the proper speech is affected and limited, and hence, speech therapy is required. Faulty articulation is also corrected.

DETAILED TREATMENT:- Kindly contact Physioline for the detailed assessment and treatment program which is individualised according to every patient.