An overview of health issues and development in a large clinical cohort of children with Angelman syndrome

This study presents a broad overview of health issues and psychomotor development of 100 children with Angelman syndrome (AS), seen at the ENCORE Expertise Center for AS in Rotterdam, the Netherlands. We aimed to further delineate the phenotype of AS, to evaluate the association of the phenotype with genotype and other determinants such as epilepsy and to get insight in possible targets for intervention. We confirmed the presence of a more severe phenotype in the 15q11.2-q13 deletion subtype. Novel findings were an association of (early onset of) epilepsy with a negative effect on development, a high occurrence of nonconvulsive status epilepticus, a high rate of crouch gait in the older children with risk of deterioration of mobility, a relatively low occurrence of microcephaly, a higher mean weight for height in all genetic subtypes with a significant higher mean in the nondeletion children, and a high occurrence of hyperphagia across all genetic subtypes. Natural history data are needed to design future trials. With this large clinical cohort with structured prospective and multidisciplinary follow-up, we provide unbiased data on AS to support further intervention studies to optimize outcome and quality of life of children with AS and their family

Incontinence in Individuals with Rett Syndrome: A Comparative Study

Frequency and type of incontinence and its association with other variables were assessed in females with Rett Syndrome (RS) (n = 63), using an adapted Dutch version of the ‘Parental Questionnaire: Enuresis/Urinary Incontinence’ (Beetz et al. 1994). Also, incontinence in RS was compared to a control group consisting of females with non-specific (mixed) intellectual disability (n = 26). Urinary incontinence (UI) (i.e., daytime incontinence and nocturnal enuresis) and faecal incontinence (FI) were found to be common problems among females with RS that occur in a high frequency of days/nights. UI and FI were mostly primary in nature and occur independent of participants’ age and level of adaptive functioning. Solid stool, lower urinary tract symptoms and urinary tract infections (UTI’s) were also common problems in females with RS. No differences in incontinence between RS and the control group were found, except for solid stool that was more common in RS than in the control group. It is concluded that incontinence is not part of the behavioural phenotype of RS, but that there is an increased risk for solid stool in females with RS

Clinical aspects of a large group of adults with Angelman syndrome

Descriptions of the clinical features of Angelman syndrome (AS) have mainly been focused on children. Here, we describe

Fostering adaptive behaviors in individuals with Angelman syndrome

Contains fulltext : 139897.pdf (publisher's version ) (Open Access)Radboud Universiteit Nijmegen, 23 april 2015Promotores : Didden, H.C.M., Curfs, L.M.G., Verhoeven, L.T.W.222 p

Van verdichting naar verlichting: Leraarcompetenties voor succesvolle communicatie in het PO en SO

Thematisch overzichtsartikel: NRO-project in de call Gedrag en Passend Onderwijs, 405-18-63

Uroflowmetric assessment in participants with Angelman syndrome

Objective: To asses possible bladder dysfunctions and lower urinary tract symptoms (LUTS) in individuals with Angelman syndrome (AS), since remarkable voiding characteristics were found in previous studies on toilet training and incontinence in AS.Method: Uroflowmetric analysis, a non-invasive technique to assess the voiding pattern, was conducted in six participants with AS.Results: Pathological uroflow patterns were found in five participants; staccato flows in three participants, interrupted flows in one and both interrupted and staccato flows in another participant. Small quantities or urine were found in four participants, large amounts in one and one participant had normal voided volumes.Conclusions: Results indicate that different conditions such as dysfunctional voiding are present in AS and future studies should further assess these in greater detail. Possible treatment of LUTS and incontinence includes adequate liquid intake, timed voidings, treatment of constipation, and allowing enough time on toilet to stimulate relaxation

Functional analysis and functional communication training in individuals with Angelman syndrome

Objective: To assess the functions of challenging behaviour in four children with Angelman syndrome (AS) and to study the effects of functional communication training (FCT) with precursor-based prompting. This study builds on and extends the study of Allen et al. Method: Experimental functional analysis assessed behavioural functions. FCT was implemented within an ABAB design and effect sizes were calculated. Burst analyses depict tendencies in (precursor) behaviours surrounding target behaviours. Results: Results show challenging behaviour to be aimed at receiving attention, tangibles or escape. Burst analysis designated physical and eye contact and reaching for tangibles as precursors. Effects of FCT ranged from small to large. Conclusion: Behavioural functions for challenging behaviour were found and FCT was effective in reducing its frequency, when precursors were used as the onset of prompting. Functional equivalence between challenging and communicative behaviour was found. Implementing treatment for challenging behaviour based on precursors is advised

Uroflowmetric assessment in participants with Angelman syndrome

Contains fulltext : 149812.pdf (publisher's version ) (Closed access)OBJECTIVE: To asses possible bladder dysfunctions and lower urinary tract symptoms (LUTS) in individuals with Angelman syndrome (AS), since remarkable voiding characteristics were found in previous studies on toilet training and incontinence in AS. METHOD: Uroflowmetric analysis, a non-invasive technique to assess the voiding pattern, was conducted in six participants with AS. RESULTS: Pathological uroflow patterns were found in five participants; staccato flows in three participants, interrupted flows in one and both interrupted and staccato flows in another participant. Small quantities or urine were found in four participants, large amounts in one and one participant had normal voided volumes. CONCLUSIONS: Results indicate that different conditions such as dysfunctional voiding are present in AS and future studies should further assess these in greater detail. Possible treatment of LUTS and incontinence includes adequate liquid intake, timed voidings, treatment of constipation, and allowing enough time on toilet to stimulate relaxation.5 p

Van verdichting naar verlichting: Leraarcompetenties voor succesvolle communicatie in het PO en SO

Item does not contain fulltextThematisch overzichtsartikel: NRO-project in de call Gedrag en Passend Onderwijs, 405-18-63393 p