ABSTRACT
At what age do children with Williams syndrome (WS) achieve major developmental milestones? Is their early development harmonious or are some of the typical discrepancies described in older children already noticeable? To address these questions we analysed information gathered over a five year period on 14 children with WS. Each child was evaluated at least twice between the ages of 5 and 48 months, using the Bayley Scales of Infant Development and during more informal observation sessions. Parents and professionals were also interviewed. This analysis provided us with an outline for "developmental norms" for children with WS and allowed us to conclude that, even before the age of 4 years, children with WS display a typical profile in their abilities. Expressive language skills are less delayed in contrast to the important delay in language comprehension and fine motor skills.
Subject(s)
Developmental Disabilities/diagnosis , Motor Skills Disorders/diagnosis , Williams Syndrome/genetics , Age Factors , Child, Preschool , Female , Follow-Up Studies , Humans , Infant , Language Development Disorders/diagnosis , Language Tests , Male , Williams Syndrome/diagnosisABSTRACT
In this study we evaluated the temperament characteristics of a group of 13 subjects with Williams-Beuren syndrome (WBS) and compared the results to the findings in a control group of 13 individuals with the same degree of mental retardation of different etiology. On the different subscales of the Dutch adaptation of the Parent Temperament Questionnaire no statistically significant differences between the WBS and the control group were noted. An easier temperament was noted in the control group, and we also found greater intensity, less persistence and lower treshold in WBS subjects. The present findings indicate that the "specific" behavioural phenotype in WBS patients is apparently more related to mental retardation itself than to the underlying genetic defect. Further studies on a large group of WBS patients and mentally retarded control group are needed to confirm these findings.
Subject(s)
Temperament , Williams Syndrome/genetics , Adolescent , Adult , Child , Child Behavior Disorders/diagnosis , Child Behavior Disorders/genetics , Child Behavior Disorders/psychology , Female , Humans , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Intellectual Disability/psychology , Male , Middle Aged , Personality Assessment , Phenotype , Reference Values , Williams Syndrome/diagnosis , Williams Syndrome/psychologyABSTRACT
In order to evaluate the medical, psychological and behavioral aspects of Williams-Beuren syndrome in adulthood, data were collected on 11 patients aged 17 to 66 years. The medical data did not confirm previous reports of significant morbidity. All adults were found to have a moderate or severe degree of mental handicap. They showed the same psychological profile as found in children: good verbal abilities, poor motor abilities, problems with sequencing and with performance tasks. The adults we evaluated showed little disturbing behavior in comparison to other mentally retarded subjects. They achieved a good level of autonomy. The majority lived at home with one or both parents and attended a day centre.
Subject(s)
Behavior/physiology , Intellectual Disability/genetics , Activities of Daily Living , Adolescent , Adult , Aged , Female , Humans , Intellectual Disability/physiopathology , Intellectual Disability/psychology , Intelligence/genetics , Male , Middle Aged , Surveys and Questionnaires , SyndromeABSTRACT
The Prader-Willi syndrome is characterized by four cardinal symptoms i.e. hypotonia, hypogonadism, mental retardation and extreme obesity. Behavioural and psychological problems are frequent in these patients, mostly related to the withholding of food and the necessity of diet control. A treatment program has been developed for their eating problems. The treatment program is based on three points: 1. The importance of teaching them healthy eating habits within a specific eating culture. 2. The convinction that their obsession and fixation on food can be canalized and satisfied by being occupied, by playing and by learning about food. 3. The opinion that involvement and active participation in their diet is necessary to prevent behavioural problems and to stimulate "self control". The key objective of this program are to control the weight gain and to prevent behavioural problems. Based on these two main objectives, we developed a program based on four principles: a personal low calorie diet, the principles of behaviour modification, stimulation of motor skills and other developmental areas, and parental participation and education. This program is applied in group situation and in individual cases. The results of the present study in 4 children are encouraging. We noted an average weight loss of 2.25 kg, with an average increase of height of 3.5 cm. On intelligence testing we found that the scores on the performal subtests improved while the scores on the verbal subtests decreased. Little change occurred in the behavioural profile.
