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Down’s Syndrome Symptoms

Down's Syndrome: Symptoms


Top Symptoms

1. Facial features

Facial features are the most prominently observable characteristics of a Down’s syndrome patient. Brachycephaly or a flat head caused by the premature fusing of coronal sutures is noticed along with smaller and low-set ears. The bridge of the nose is severely flattened and the mouth is irregularly shaped. The tongue may often stick out of the mouth and in between the lips. Closer examination reveals tissue build-up on the iris of the eye. These Brushfield’s spots do not affect vision however. The teeth are very small in size and arrive quite late in childhood. They are often crooked and out of sequence. The palate is oval in shape.

2. Hypotonia

This refers to loss of muscle tone, especially of the skeletal muscles. Though the intensity may vary from mild to severe, children with Down’s syndrome have it throughout the body. Thus, it would appear as if the child has much less strength compared to other children of the same age. The neck flops down and is not well supported due to the weak muscles. The stomach too bulges out due to the same reason. There is a stunted growth which happens in 100 percent of all down syndrome cases.

3. Heart defects

About 50 percent of the children who suffer from Down’s syndrome have a congenital heart defect of one kind or the other. The good news is that most of these defects can be discovered at birth and treated in time so that it does not affect the quality of life. The most common among these defects are the atrial septal defect, the atrioventricular septal defect, the ventral septal defect, tetralogy of fallot and the persistent patent ductus arteriosus.

4. Intellectual disability

Mental retardation is another symptom that exhibits in 100 percent of all the cases. This has been termed as ‘intellectual disability’ in standard medical references and is expressed as a decreased ability to learn and think. Performing complex tasks are far beyond the purview of a child suffering from Down’s syndrome. The IQ ranges from 50-70 in mild cases and from 30-50 in severe cases. However, the exact determination of IQ in these cases has been subject to criticism as the test gets affected by two reasons, viz, the low expectations of the tester and the decreased sensory perception in the eyes and ears of the patient.

5. Strabismus and macroglossia

Strabismus is also known as heterotropia. It is a condition in which the eyes are not aligned properly with each other. This happens because of the lack of coordination between the extra-ocular muscles. This in turn results in improper binocular vision due to improper eye alignment. Forty percent of the patients exhibit this. Macroglossia is the term that is used for the abnormal enlargement of the tongue. While slight enlargements cause cosmetic aberrations, severe enlargements results in difficulty while speaking, swallowing and sleeping. There have been cases where breathing has become difficult due to macroglossia. 

6. Smaller organs and limbs

The stunted growth that Down’s syndrome brings with itself results in the reduced sizes of many organs and limbs. The hands are much smaller compared to normal children in almost half of the cases. The extremities of the body, especially the toes and fingers are also short and stumpy. The neck can be so short that at times it appears as if the patient is neck less. The size of the mouth is also very small in comparison with other children of the same age. Children suffering from Down’s syndrome also have unusually small genitalia. At times, however, there are extra growths also. This is what happens in the case of eyelid creases. 

7. Language and motor skill disabilities

Children that are affected by Down’s syndrome show a speech delay. This means that they are unable to make use of the sound producing mechanisms like the mouth, tongue, teeth and vocal chords till a very later stage. They also suffer from language delay. This refers to the delay in picking up the mother tongue. Since they lag behind the others in the gross motor skills, the cognitive development of these children is impaired. They start walking as late as when they are 4 years old! There is also a delay in the development of fine motor skills.

8. Associated diseases

There is a 50 percent chance that the children suffer from a host of other diseases too. Celiac disease, where the foods which contain gluten proteins, trigger an abnormal immune system response that damages the small intestine, is a digestive complaint of the patients. Hypothyroidism, caused due to a thyroid gland that is functioning at a level much below its normal level, results in the Down’s syndrome patients being weak, lethargic and fatigued. The children are also prone to eye conditions, hearing problems, eye problems, dental problems and respiratory infections.

9. Other traits

A host of other traits occur, with a 50 percent chance, in the children suffering from Down’s syndrome. These include an umbilical hernia which expresses as a highly swollen navel or belly button. The palms are flattened and large with a single stroke running across in a condition known as transverse palmar crease. The neck is often very thick with excess fat which shows as skin folds behind the neck. The fingerprints are atypical in nature and the fingers exhibit clinodactyly. This means that there is a bend in the fifth finger towards the fourth one.

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