Rubinstein–Taybi syndrome

The Rubinstein - Taybi syndrome ( RTS) is a genetic disorder that is associated with moderate mental retardation and physical deformities. The syndrome was first described in 1957 in a study. The namesake Jack Herbert Rubinstein and Hooshang Taybi described this syndrome for the first time in 1963.

Frequency

The overall frequency (incidence) is 1:120.000. Since up to the 80s only studies were conducted on children in dormitories, there is this in the literature very different information. RTS is often not or only diagnosed in their teens because of the appearance variations are very large. It also often happens that the children have no characteristic facial features and are only very slightly mentally retarded

Appearance and physical characteristics

The Rubinstein - Taybi syndrome is associated with varying degrees of mental retardation to the most an intelligence quotient is determined under 50, ranging 17-86 ranges.

In addition, often show a number of typical physical characteristics: The head is relatively small with a wide eye relief and serious or very high eyebrows, to squint and refractive errors, so often wear glasses must be worn. The nose appears accentuated, the nose bridge is extended downwards. Sometimes you find a reddish birthmark on his forehead. The ears may be low set and abnormally modeled. At a high and narrow palate is applied in a high percentage of the affected Prämolarisation the corner and incisors in the form of " claws humps".

Of those affected are rather dwarfed stature with curvature of the spine, vertebral anomalies and small, slate hip. These come partly a high extensibility of the joints and stiff unsteady gait. Frequently, excess hair and strikingly broad, often bent thumb and big toe are. Although the fine motor functions are less affected, the differentiated handling is complicated by broad thumbs.

Frequent Mißblidungen to internal organs are water bag kidney and heart failure, namely, persistent ductus arteriosus, ventricular septal defect and pulmonary stenosis.

Cause

When Rubinstein Taybi syndrome show mutations of the CBP gene in 10-25 % microdeletion on the short arm of chromosome 16 [ 16p13.3 ) and the p300 gene on the long arm of chromosome 22 ( 22q13.2 )

Behavior

Abnormalities in behavior can be found as early as infancy. The children are restless, difficult to feed and tend to the common cold. During language comprehension is relatively well trained, language development is significantly impaired and slowed down noticeably. Older children seem anxious and always on the go, are difficult to fix on employment. On the other hand they are quite sociable, friendly and facing. Learning progress can be achieved through imitation.

Promotion

In dealing with sufferers clearly structured situations help avoid overstimulation and thus achieve improved attentional performance. Motorized activities are supported and enhanced by appropriate measures, such as psychomotor exercise treatment. To meet the emotional needs are sufficiently social amplifier and intimate relationships of great importance. In the communication and sign language is used because some children do not speak.