Behaviour phenotype for Down's syndrome

1998 ◽  
Vol 172 (1) ◽  
pp. 85-89 ◽  
Author(s):  
Richard A. Collacott ◽  
Sally-Ann Cooper ◽  
David Branford ◽  
Catherine McGrother

BackgroundFor more than a century, the idea of particular personality/behavioural characteristics being associated with people with Down's syndrome has been explored, but with inconclusive results.MethodThe Disability Assessment Schedule was used to ascertain the behavioural profiles of 360 adults with Down's syndrome and 1829 adults with learning disabilities of other aetiologies, who were the whole identified population within a defined geographical area. Comparison was made between the two total groups and additionally for the subgroups aged < 35 years and aged ⩾35 years. Comparison was also made with regards to cluster analysis findings.ResultsDespite an equal age and developmental quotient, the Down's syndrome group were less likely to demonstrate maladaptive behaviours. The behaviour characteristics of the adults with Down's syndrome remained constant in the younger and older age groups. Cluster analysis demonstrated adults with Down's syndrome to have an increased prevalence in cluster groupings with lower rates of maladaptive behaviours.ConclusionsThis study confirms there to be a behaviour phenotype among adults with Down's syndrome. The reasons for this (e.g. genetic/psychological/social) require further research. Such research may establish a better understanding of the aetiologies of maladaptive behaviours among people with learning disabilities in general.

1996 ◽  
Vol 169 (2) ◽  
pp. 219-227 ◽  
Author(s):  
Susan Smith ◽  
David Branford ◽  
Richard A. Collacott ◽  
Sally-Ann Cooper ◽  
Catherine McGrother

BackgroundMaladaptive behaviours are frequently present in individuals with learning disabilities; however, their prevalence varies between studies and the aetiology, classification and most appropriate management of such behaviours remain unclear. The aims of the study were twofold: firstly to determine the prevalence of maladaptive behaviours, and secondly to develop a classification typology.MethodA population of 2202 adults with learning disabilities was surveyed to determine the prevalence of maladaptive behaviours. These were subjected on the basis of 13 behavioural characteristics to cluster analysis. The clusters were further examined in respect of secondary variables.ResultsOver 60% of individuals demonstrated the presence of at least one maladaptive behaviour and in 40% this problem was of either severe degree or frequent occurrence. Men were more likely to demonstrate physical aggression, property destruction, tantrums and verbal abuse than women. Although some severe maladaptive behaviours diminished with age, many persisted through all age groups. Six behavioural clusters were devised which demonstrated face validity and which differed in respect of demographic and developmental variables, and the prevalence of maladaptive habits and autistic symptoms.ConclusionsThese findings demonstrate a high prevalence of maladaptive behaviours and ‘objectionable habits’ among people with learning disabilities. A classification of behavioural symptoms may be possible on the basis of symptom clusters.


1998 ◽  
Vol 173 (5) ◽  
pp. 428-432 ◽  
Author(s):  
Richard A. Collacott ◽  
Sally-Ann Cooper ◽  
David Branford ◽  
Catherine McGrother

BackgroundThere have been few epidemiological studies of the disabling and poorly understood disorder self-injurious behaviour among adults with learning disabilities.MethodInterviews were undertaken with the carers of adults known to the Leicestershire Learning Disabilities Register (n=2277). The Disability Assessment Schedule was used and information was also collected on demographic characteristics, developmental and physical status.ResultsSelf-injurious behaviour was present in 17.4% of the population. In 1.7% self-injurious behaviour occurred frequently and was severe. There was no gender difference between those with and without self-injurious behaviour. Both the chronological age and developmental quotient of individuals with self-injurious behaviour were lower than those of individuals without self-injurious behaviour. Autistic symptoms were more common among those with self-injurious behaviour. The association of self-injurious behaviour with a wide range of other maladaptive behaviours was highly significant. Logistic regression analysis retained age, developmental quotient, hearing status, immobility and number of autistic symptoms as explanatory variables for self-injurious behaviour.ConclusionsSelf-injurious behaviour is a prevalent and disabling disorder among adults with learning disabilities.


PEDIATRICS ◽  
1974 ◽  
Vol 54 (2) ◽  
pp. 165-168
Author(s):  
Phillip Weise ◽  
Richard Koch ◽  
Kenneth N.F. Shaw ◽  
Martin J. Rosenfeld

The clinical use of 5-HTP in the treatment of patients with Down's syndrome was reported by Bazelon and her colleagues in 1967. This approach appeared to offer the hope of improving subnormal development of children with this chromosomal defect. The rationale for the use of 5-HTP is related to its role as the natural biochemical precursor for serotonin (5-hydroxytryptamine). The blood level of this hormone is said to be decreased in Down's syndrome. The present study concerns 26 children with Down's syndrome who were treated with 5-HTP from early infancy until 3 to 4 years of age: 19 completed the course of treatment. DL-5-HTP was given orally with an initial dosage of 0.5 to 1.5 mg/kg/day. The dose was increased stepwise in 1 mg/kg/day increments to a maximum of 5 mg/kg/day. Children were seen by a clinic physician every 1 to 4 months and were assessed by a clinic psychologist every six months. The Gesell Test of Developmental Abilities was used to assess each child's level of development in terms of a total Developmental Quotient (DQ). The psychological findings were analyzed by applying a t test of the difference between independent mean DQs obtained for each age category. The results of this study indicate that long-term systematic use of 5-HTP is not effective in increasing the rate of development of Down's syndrome children.


PLoS ONE ◽  
2010 ◽  
Vol 5 (1) ◽  
pp. e8394 ◽  
Author(s):  
Henri Blehaut ◽  
Clotilde Mircher ◽  
Aimé Ravel ◽  
Martine Conte ◽  
Veronique de Portzamparc ◽  
...  

1974 ◽  
Vol 124 (582) ◽  
pp. 453-455 ◽  
Author(s):  
P. A. P. Moran

Penrose and Smith (1966) have reviewed the literature on Down's syndrome in great detail, and this has been followed by an important recent review by Richards (1973). In Chapters 10 and 11 of Penrose and Smith's book they discuss the remarkable frequency distribution of the ages of mothers of patients, compared with that of the general population at the corresponding place and time, and they summarize the large number of studies made on this subject. The mean age of the mothers is shifted upwards by amounts which vary in different countries from about 6 to 8 years. The remarkable feature, however, is that there appear to be two bumps in the curve. These are usually (but not always) not large enough to make the curve bimodal, and J. B. S. Haldane therefore coined the term ‘bitangentiality’ for this phenomenon, which appears in most published studies and in the group of all sample cases (9,441) given by Penrose and Smith, Fig. 76. Collmann and Stoller (1962) make a complete survey of all mongol births in Victoria, Australia, from 1942 to 1957 and here there is a distinct bimodality.


1993 ◽  
Vol 162 (6) ◽  
pp. 739-743 ◽  
Author(s):  
Sally-Ann Cooper ◽  
Richard A. Collacott

Until recently, it was considered that Down's syndrome precluded a diagnosis of mania, or gave rise to an atypical presentation. There have been seven case reports of mania in people with Down's syndrome and all these cases are reviewed. The clinical features of mania are noted to be similar to those previously described in individuals with learning disabilities due to other causes. However, all reported cases are male and none has a family history of affective disorder. In two of the seven men reported, the illness followed a rapid cycling pattern. Hypothyroidism and monoamine biochemistry in people with Down's syndrome are discussed in the context of these atypical features.


1997 ◽  
Vol 170 (6) ◽  
pp. 502-506 ◽  
Author(s):  
Sabyasachi Bhaumik ◽  
David Branford ◽  
Catherine McGrother ◽  
Catherine Thorp

BackgroundAlthough many adults with learning disabilities show features of autistic syndrome, there have been very few population-based studies. We explored the prevalence of autistic traits and their association with maladaptive behaviours in a geographically defined population of adults with learning disabilities.MethodThe carers of 220l adults with learning disabilities were interviewed, and information was sought concerning aspects of their behaviour and ability. Individuals were scored according to the number of core autistic traits displayed. The prevalence of autistic traits was examined in respect of aspects of behaviour and ability.ResultsAutistic traits were common among adults with learning disabilities. Those with a higher number of autistic traits were more likely to be profoundly learning disabled and demonstrate awide range of challenging behaviours.ConclusionsMany adults with learning disabilities demonstrate autistic traits. The relationship of autistic traits with challenging behaviour has major implications in service planning and delivery.


1966 ◽  
Vol 15 (3) ◽  
pp. 231-246 ◽  
Author(s):  
Giuseppe Cardinali ◽  
Giuliana Cardinali ◽  
Francesco Renzulli ◽  
Luigi Capotorti ◽  
Enzo Ferrante

SUMMARYThe Authors studied the leukocyte alkaline phosphatase (LAP) activity in 40 subjects with Down's syndrome. The age of the patients ranged from one week to 15 years. Chromosome analysis was carried out in 13 cases. 42 normal children of the same age as the patients were used as controls. The mean value of LAP in the patients with Down's syndrome was 175.5 and in the control group 108.8. In the latter group the LAP activity was clearly influenced by the age; the highest values were obtained in children under 11 years of age. The regression coefficient of the LAP on the age in the control group was –3.73. In the patients with Down's syndrome the differences observed between the various age groups were not statistically significant.Chromosome studies showed a 21 trisomy in 12 cases; in one case a 15/21 translocation was found. The latter case presented an elevated LAP activity.The Authors support the hypothesis that the gene or genes controlling LAP activity are located in the 21 chromosome and that the LAP activity may vary under the influence of several factors within the limits of the genetic control.


1997 ◽  
Vol 170 (4) ◽  
pp. 375-380 ◽  
Author(s):  
Sally-Ann Cooper

BackgroundThe literature regarding psychiatric illness among elderly people with learning disabilities is limited and conflicting because of methodological differences. There have been no recent studies comparing psychiatric epidemiology between younger and older adults with learning disabilities, using the same methodology and definitions.MethodComprehensive psychiatric examination using a semi-structured rating scale was undertaken on everyone with learning disabilities, aged 65 years or over (n= 134), living in a defined geographical area. Comparison was made with a randomly selected control group of adults with learning disabilities aged 20–65 years (n=73) drawn from the same geographical area.ResultsElderly people with learning disabilities have a greater prevalence of psychiatric morbidity than younger controls (68.7v. 47.9%). Rates for depression and anxiety disorders are high, and dementia is common: there are equal rates for schizophrenia/delusional disorders, autism and behaviour disorders in the two groups.ConclusionsThe higher psychiatric morbidity among elderly (compared with younger) people with learning disabilities has not previously received adequate recognition. This warrants further investigation by service planners and clinicians.


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