Journal of Intellectual Disability Research 1024 volume 54 part 11 pp 1024–1029 november 2010

doi: 10.1111/j.1365-2788.2010.01331.x

Adaptive behaviour in Angelman syndrome: its profile and relationship to age
jir_1331 1024..1029

C. Brun Gasca,1 J. E. Obiols,1 A. Bonillo,1 J. Artigas,2 I. Lorente,2 E. Gabau,2 M. Guitart2 & J. Turk3,4
1 Universitat Autonoma de Barcelona, Facultat de Psicologia, Bellaterra, Spain 2 Hospital Taulí de Sabadell, Sabadell, Spain 3 Southwark Child & Adolescent Mental Health Developmental Neuropsychiatry Service South London & Maudsley Foundation NHS Trust, London, UK 4 St.George’s University of London, Cinical Developmental Sciences, London, UK

Abstract Background Angelman syndrome (AS) is a neurodevelopmental disorder usually caused by an anomaly in the maternally inherited chromosome 15. The main features are severe intellectual disability, speech impairment, ataxia, epilepsy, sleep disorder and a behavioural phenotype that reportedly includes happy disposition, attraction to/fascination with water and hypermotoric behaviour. Method We studied the level of adaptive behaviour and the adaptive behavioural profile in the areas of ‘motor skills’, ‘language and communication’, ‘personal life skills’ and ‘community life skills’ in a group of 25 individuals with genetically confirmed AS, to determine whether there is a specific adaptive behaviour profile. Results and conclusions None of the individuals, whatever their chronological age, had reached a developmental age of 3 years. A specific adaptive behaviour profile was found, with ‘personal life

skills’ emerging as relative strengths and ‘social and communication skills’ as weaknesses. Keywords adaptive behaviour, Angelman syndrome, behavioural phenotype, ICAP, intellectual disability

Introduction
Angelman syndrome (AS) is caused by lack of functioning of certain genes from the maternally inherited chromosome 15. Four different genetic mechanisms have been described: maternal deletion of 15q11-q13 (accounting for 70% of the cases), paternal uniparental disomy 15 (UPD) (3–5% cases), chromosome 15 imprinting defect (2–5% cases) and maternal UBE3A mutation (15% cases) (Cassidy et al. 2000). The causes for the remaining 5–10% of occurrences are still unknown. Since the first description by (Angelman 1965) the researchers have worked on describing the physical and behavioural phenotype associated with the syndrome. The neurological disorders caused by AS include severe intellectual disability (ID), epilepsy, lack of speech, ataxia and sleep difficulties.

Correspondence: Dr Carme Brun Gasca, Dept. Psicologia Clinica de la Salut i Psicologia Social Edifici B 08193-Bellaterra, Spain (e-mail: carme.brun@uab.cat).

© 2010 The Authors. Journal of Intellectual Disability Research © 2010 Blackwell Publishing Ltd

by Peters et al. Dyckens et al. and two had paternal UPD. flat occiput. motor skills. wide-spaced teeth and microcephaly. 1988. Method Participants We studied a cohort of 25 individuals with AS. making friends. • Adaptive behaviour in Angelman syndrome volume 54 part 11 november 2010 Affected individuals usually show some associated physical features: brachycephaly. Hagerman et al. and personal responsibility. Some were patients from the hospital. highlights the profile of adaptive behaviour. Montero 1996). safety. Journal of Intellectual Disability Research © 2010 Blackwell Publishing Ltd . 2008). Adaptive behaviour was assessed in four areas: ‘motor skills’. e. The rest were contacted through the Spanish association for AS and were outpatients from other hospitals. 1989). (2004). Didden et al. and a weakness in motor skills when assessed with the Bayley Scales of Infant Development and the Vineland Adaptive Behaviour Scales. 2008. hypopigmentation. ‘personal life skills’ and ‘community life skills’. All individuals underwent a molecular test for AS to determine their molecular status and were assessed by a psychologist. Pelc et al.g. The authors concluded that environmental factors are often ignored when trying to define the behavioural phenotype and that these may account for some features described. On the basis of our clinical experience in previous cases. aged from 1 year and 4 months to 17 years and 9 months. Spain). finding a relative strength in socialisation. the smile and the fascination with water have been subjects of more specific research exploring this point of view (Horsler & Oliver 2006b. showing an age-dependent ceiling effect. we expected the raw scores on the adaptive behaviour scale to be lower than 36 months for most individuals. ClaytonSmith 1993. The authors also found a strong positive correlation between cognitive ability scores and adaptive behaviour scores. cleaning. 2006). the weak scales being: ‘social and communication’ and ‘community life skills’. Williams syndrome (Pober & Dyckens 1996. Brun Gasca et al. Williams et al. evaluated 20 AS children using the Griffiths’ Mental Development Scale. The molecular findings were as follows: 23 individuals had the typical deletion of 15q11-q13. Adaptive behaviour is an important element of the definition of ID and is described as the ageappropriate behaviours needed to live independently and to function safely and appropriately in daily life. Horsler & Oliver (2006a) review critically and in depth the research carried out in 64 studies that describe the behavioural phenotype of AS. ‘language and communication’. These include life skills such as dressing. 1992). This instrument is a questionnaire–interview for parents or carers of children and adults with severe ID. 1998) and Prader–Willi syndrome (Curfs & Fryns 1992. 1986. some phenomena such as the happy disposition. protruding tongue. easily excitable personality and hyperactivity (Zori et al. 1992. Furthermore. attraction to/fascination with water. and Richman et al. They found that no participants achieved a mental age score higher than 23 months (median 10 months). It was adminis- © 2010 The Authors. The behavioural phenotype has been reported to include happy disposition. Although the level of ID in AS has been always described as severe. We hypothesised that the results of the adaptive behaviour assessment would show a similar profile for the majority of the individuals. (2001). Q3 = 11 years and 11 months). Definitions of such profiles are an important component of the behavioural phenotype and have been widely studied in other syndromes. fragile X syndrome (Kemper et al. Howlin et al. The mean age was 8 years and 3 months [standard deviation (SD) = 4 years and 11 months]. communication and social skills. 1995. published psychometric assessments are scarce. To the best of our knowledge only one study. and the median age was 9 years (Q1 = 3 years and 10 months.Journal of Intellectual Disability Research 1025 C. Andersen et al. No participants achieved a developmental age over 17 months and all of them scored in the range of severe to profound ID. willing to collaborate with the research. using the Spanish version of the test Inventory for Client and Agency Planning (ICAP) (Bruinikins et al. 17 males and 8 females. Procedure and instruments The participants were evaluated in the Paediatric Area of the Hospital Tauli in Sabadell (Barcelona. The aim of this research was to assess the level of adaptive behaviour and describe its profile in 25 individuals diagnosed with AS.

Scores for the different scales suggest a specific profile of abilities in which.7%.24 10. and a good predictive validity for the adaptive behaviour (Montero 1996).60 20. This distance is not linear but cubic in that it increases rapidly to stabilise in the minimal scores reaching a plateau.440 26. Chicago..16 24.5 3 3 3 Median 9 Quarter 3 11 years 11 months 23 33 18 24 14 39 59. SD = 15 equivalent of psychometric scores of intelligence quotient) can also be obtained comparing developmental level and chronological age.749 27. Brun Gasca et al.97 to 0. from the highest to the lowest mean.00 19.16. In adaptation studies of ICAP.377 Quarter 1 3 years 10 months 12. Heller et al. Statistical analysis was carried out using spss 17.0 (SPSS Inc. It also has a good construct and criterion validity.6) (See Table 1). USA).80.Journal of Intellectual Disability Research 1026 C.32. Results The maximum raw score for the total scale was 27 months. whereas the ‘social and communication skills’ scale showed a narrower range of scores.778 9. the order of scales was: ‘personal life skills’ (typical = 34. ‘community life skills’ (typical = 24. For the total score.141 3. 1998. • Adaptive behaviour in Angelman syndrome volume 54 part 11 november 2010 tered by the psychologist in a personal interview with the parents.84. the greater the difference from populations without ID. The raw score measures the ‘developmental age’ (in months) for the total scale and for each of the areas. the ICAP has been widely used in childhood studies by different ages and degrees of disability (e.32 23.g. Journal of Intellectual Disability Research © 2010 Blackwell Publishing Ltd . Figure 1 illustrates type and degree of relationship between age and typical score for each one of the adaptive behaviour scales. R2 = 73. A typical score ( X = 100 . raw = 10.32. The two cases with UPD showed a similar profile to the rest of the sample.965 27.89 to 0.24) and ‘social and communication skills’ (typical = 17.648 4.80 34. 2004).5 8 3 8.5 51 29 Minimum 1 year 4 months 7 4 5 9 11 3 3 3 3 3 Maximum 17 years 9 months 27 42 17 40 27 83 102 73 76 76 19 26 18 19 11 3 26 5 3 7 © 2010 The Authors.5 19 11 11. The exceptionally highs values of R2 show how the relationship between adaptive behaviour levels and age is deterministic because almost all the variance is explained by the regression (this can also be inferred from the narrow confidence intervals). raw = 25. 1997. IL. The vertical line regarding the axis of abscissas shows the cut-off point of age from which practically all the subjects (all of them for the ‘social and communication’ scale and all except one for the rest Table 1 Descriptive statistics for age and Inventory for Client and Agency Planning scale adaptive behaviour scores Mean Chronological age Raw scores (months) Total score Personal life Community life Motor skills Social and communication Typical scores Total score Personal life Community life Motor skills Social and communication 8 years 3 months 17.84 17.840 21. raw = 19. For each graphic of the figure we can observe (as expected) that the older the patient is. For years. Bihm et al.32 Standard deviation 4 years 11 months 5. One of the areas of adaptive behaviour (personal life) shows a R2 value slightly lower than the rest. internal consistency was measured by Cronbach’s alpha in different samples of teens and children with ID.726 8.84 25. ‘motor skills’ (typical = 23.99. The highest variability of scores was found for ‘personal life skills’. a ranged from 0.99 and for test– retest ranged from 0.53 to 0.5 60. for the four sub-scales ranged from 0.56 16. raw = 16). Orsmond et al.685 31.56).

The results also showed a specific adaptive behaviour profile. vertical line shows the cut-off value of age from which all subjects (c) or all minus one (a. Horizontal line shows a typical score of 20. Solid curves show cubic regressions lines and dotted curves their 95% confidence interval. The lower scores are in line with work by Sales & Turk (1991) who documented frequent social and communication difficulties often to the extent of being consistent with a diagnosis of © 2010 The Authors.d) have a typical score lower than 20. These scores suggest a level of severe to profound ID.e. of the scales) have a typical score under 20 (i. which corresponds to a percentile lower than 1. This profile is not completely consistent with the results found by Peters et al. R2 show the percentage of variance explained by regressions. Discussion As hypothesised. whatever their chronological age. none of the individuals achieved a direct general score for the ICAP above 36 months of developmental age. (2004) who also found ‘motor skills’ to be a weakness but concluded that ‘socialisation’ is a relative strength for these patients. Journal of Intellectual Disability Research © 2010 Blackwell Publishing Ltd . Brun Gasca et al. The higher scores were for ‘personal life’ followed by ‘community life’ and the lower ones were for ‘motor skills’ and ‘social and communication’. four standard deviations under the mean).Journal of Intellectual Disability Research 1027 C. indicating that none of the individuals. had reached a developmental age of 3 years. • Adaptive behaviour in Angelman syndrome volume 54 part 11 november 2010 Figure 1 Cubic regression of each Inventory for Client and Agency Planning adaptive behaviour scores and age.b.

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