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1. DOWN SYNDROME-structural characteristics aspects are:
- Skull is small and presents brachycephalism;
- Occipital's unshaped protuberances;
- Language is cracked, with a wide aspect and hypotonic, or narrow and sharp;
- Thick lips and cracked across;
- Frequent abnormal jaws and teeth;
- Short fingers These structural features are typical for Down syndrome only if they are combined in the same individual, isolated, they may also occur in people who have other disabilities or even normal people.
• have a reduced immune capacity, being especially vulnerable to infection;
• low forehead, small nose, flat root, round face, small ears, lying very low;
• usually lies in the severe or profound mental deficiency, cases of mild or moderate mental deficiency being rare;
• have increased delays in language development, many problems of pronunciation, major difficulties in acquiring reading-writing, sharp psychological movement disorders , especially if they do not benefit from early therapeutic and educational activities appropriate. These children have real potential for development, which recovered early, gives a chance to prepare gradually integrating into the community and even ordinary education system;
• are usually affectionate, cheerful, eager to touch with the company of other people and to live in a tolerant group,to help him and encourage him in his approaching manifestations;
2. KLINEFELTER'S SYNDROME is caused by an aberration of sex chromosomes, the karyotype of most patients being 47XXY and affects only male.
Characteristics of physical development: in childhood: high waist, small testicles that have not descended into the scrotum; at puberty: it emphasizes some female type characteristics: wide hips, underdeveloped musculature, poor pilosity . • is affected, usually intellectual development, disease severity being based on the number of chromosomes X;
• there are present some emotional-behavioral disorders, like shyness, increased states of inhibition, inferiority complex, sexual perversion;
3. Phenyl pyruvate oligophrenia - described by Föling in 1934, characterized by lack of enzyme in the blood which processes phenylalanine in thyroxine. When this process doesn't occure, acid phenylalanine turns phenil pyruvate, toxic to the body, especially for CNS.
After the first months after birth, the first signs of the disease:
- Increased irritability, seizures;
- Morphological features: blue eyes, smooth skin, blond hair;
- Stereotypes presence at the movements level, muscle rigidity, live musculoskeletal tendon reflexes, convulsive events.
Endemic cretinism arises particularly in certain geographic areas without iodine. Development of the body is affected in early prenatal period, as a result of insufficient iodine and disturbance of thyroid hormone synthesis process. If occasionally cretinism, thyroid, or remains undeveloped or degenerates, endocrine failure, consequent to this state, strongly affects the development, including intellectual.
- Small stature, relatively large skull, dry and yellowish skin, coarse hair, deformed abdomen, hernias.
- Mentally, are apathetic,have poor movement and mimicry, low reactivity and intellectual impairment increased.
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