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Item does not contain fulltext Een vertraagde en verstoorde taal- en spraakontwikkeling is een belangrijk onderdeel van het downsyndroom-gedragsfenotype. De taalontwikkeling wordt geassocieerd met negen neurosociocognitieve kerndomeinen, welke alle van invloed zijn op en een bijdrage leveren aan taalontwikkeling. Onderzoek naar de achterblijvende woordenschatontwikkeling bij kinderen met downsyndroom heeft zich tot op heden beperkt tot onderzoek naar slechts één of enkele van deze domeinen, terwijl bekend is dat kinderen met downsyndroom op alle negen domeinen hun eigen sterktes en zwaktes hebben. Het doel van dit onderzoek was het gelijktijdig in kaart brengen van de mogelijke samenhang tussen de receptieve en expressieve woordenschat enerzijds en de negen kerndomeinen anderzijds bij kinderen met downsyndroom in de leeftijd van 1-6 jaar. Binnen een vragenlijststudie, die is uitgevoerd bij 123 ouders van kinderen met downsyndroom, zijn kleine, opeenvolgende stappen in de ontwikkeling van de kerndomeinen beoordeeld middels stellingen. Per domein zijn vervolgens de totaalscores bestudeerd en de correlaties berekend. Om te corrigeren voor de invloed van leeftijd en levenservaring zijn de partiële correlaties berekend. Aandacht, cognitieve ontwikkeling, sociaal-emotionele ontwikkeling, mobiliteit, fijne motoriek, zelfredzaamheid, adaptatie en oriëntatie toonden alle een significante positieve samenhang met zowel de expressieve als receptieve woordenschat. Deze eerste exploratieve studie laat zien dat ook bij kinderen met downsyndroom deze neurosociocognitieve kerndomeinen samenhangen met de woordenschatontwikkeling. Het is daarmee belangrijk om het functioneren op deze domeinen te betrekken bij interventies en een holistisch perspectief op de taalontwikkeling in te nemen. 8 p.

Item does not contain fulltext Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial features, and marked autonomic nervous system dysfunction, especially with disturbances of regulating respiration and intestinal mobility. It is caused by variants in the transcription factor TCF4. Heterogeneity in the clinical and molecular diagnostic criteria and care practices have prompted a group of international experts to establish guidelines for diagnostics and care. For issues, for which there was limited information available in international literature, we collaborated with national support groups and the participants of a syndrome specific international conference to obtain further information. Here, we discuss the resultant consensus, including the clinical definition of PTHS and a molecular diagnostic pathway. Recommendations for managing particular health problems such as dysregulated respiration are provided. We emphasize the need for integration of care for physical and behavioral issues. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimization of diagnostics and care. 17 p.

Item does not contain fulltext The expressive vocabulary of children with Down Syndrome (DS) is generally measured with parental reports, such as the Communicative Development Inventory (CDI), given that standardized tests for assessing vocabulary levels may be too difficult for most young children with DS. The CDI provides important insight into the parents' perception of their child's vocabulary development. The CDI has proven to be a valid measurement of expressive vocabulary, spoken and gestural, in typical and atypical populations. The validity in children with DS is not well established and signed vocabulary is often not included. This longitudinal study examined the concurrent and predictive validity of the Dutch version of the CDI (N-CDI) in children with DS between 2;0 and 7;6 years old to assess spoken and signed vocabulary. N-CDI scores were assessed on strength of association with mental age, an expressive vocabulary test and spontaneous language analyses in a play setting with parents at T1 and T2 (1.5 years later), and a therapy setting with speech language pathologists at T1. The results of the present study show that the N-CDI is a valuable and valid measurement of expressive vocabulary in children with DS. Strengths and weaknesses of several assessment methods for expressive vocabulary are discussed. 9 p.

Item does not contain fulltext Purpose: There is a lack of longitudinal data on predictors of vocabulary development in children with Down syndrome (DS). In typically developing children, many internal and external predictors of vocabulary development have been determined before. The purpose of the present study was to investigate the role of these variables in the receptive and expressive vocabulary development of children with DS. Method: The present study used a longitudinal design in young children with DS to study the vocabulary development over a period of 1.6 years and investigated the possible predictive role of child-related and environmental variables. Result: Receptive vocabulary development was best predicted by the adaptive level of functioning and early receptive vocabulary skills. Expressive vocabulary development was best predicted by the adaptive level of functioning, receptive vocabulary, maternal educational level, level of communicative intent of the child, attention skills and phonological/phonemic awareness. Conclusion: A wide range of internal and external predictors for vocabulary development of children with DS was found. Predictors resemble those predicting vocabulary development in peers with typical development between 1 and 6 years of age, as identified in other studies. 13 p.

Item does not contain fulltext The aim of this study was to develop a core vocabulary list for young children with intellectual disabilities between 2 and 7 years of age because data from this population are lacking in core vocabulary literature. Children with Down syndrome are considered one of the most valid reference groups for researching developmental patterns in children with intellectual disabilities; therefore, spontaneous language samples of 30 Dutch children with Down syndrome were collected during three different activities with multiple communication partners (free play with parents, lunch- or snack-time at home or at school, and speech therapy sessions). Of these children, 19 used multimodal communication, primarily manual signs and speech. Functional word use in both modalities was transcribed. The 50 most frequently used core words accounted for 67.2% of total word use; 16 words comprised core vocabulary, based on commonality. These data are consistent with similar studies related to the core vocabularies of preschoolers and toddlers with typical development, although the number of nouns present on the core vocabulary list was higher for the children in the present study. This finding can be explained by manual sign use of the children with Down syndrome and is reflective of their expressive vocabulary ages. 10 p.

Contains fulltext : 99344.pdf (Publisher’s version ) (Closed access) Total and chronic food refusal (i.e., the refusal of all types of food during a prolonged period) in young children with developmental disabilities can be treated effectively using a combination of environmental interventions. However, no guidelines for the selection of food items to offer the child in these interventions are available. The aim of the present study was to assess the preferences for specific food items of young Dutch nondisabled children (N = 254) in order to enable trainers to select food items that maximize success of feeding interventions. Results indicate that 54 out of 107 food items were found to be preferred. The mean appreciation scores of boys and girls did not differ significantly for these preferred food items, except for raisins and brown bread. Also, there were no differences between the distinguished age-groups, except for peach. Recommendations for the selection of food items within feeding intervention for total and chronic food refusal in young children with developmental disabilities are given. 6 p.

Item does not contain fulltext Enhancing communication performance skills may help children with Down Syndrome (DS) to expand their opportunities for participation in daily life. It is a clinical challenge for speech-language pathologists (SLP) to disentangle various mechanisms that contribute to the language and communication problems that children with DS encounter. Without clarity of different levels of functioning, appropriate interventions may be poorly conceived or improperly implemented. In the present study, the International Classification of Functioning, Disability and Health - Children and Youth Version (ICF-CY) framework was used to classify contributing factors to communication performance in a multiple case study of six young children with DS. Within a comprehensive assessment, we identified individual and environmental facilitators and barriers, leading to an integrative profile of communication performance (IPCP) for each child. Whereas these six children shared a developmental, and/or expressive vocabulary age and/or level of communicative intent, the children faced similar but also unique personal and environmental factors that play an important role in their communication performance. Our data reveal that a combination of different factors may lead to the same language outcomes and vice versa, based on a unique pattern of interdependency of ICF-CY domains. Planning SLP interventions for enhancing communication performance in children with DS should therefore be based on a comprehensive view on the competences and limitations of every individual child and its significant communication partners. This evaluation should address facilitators and barriers in body functions, structures, activities, participation and environment, with a specific focus on individual strengths. The ICF-CY provides a useful framework for constructing an IPCP that serves this purpose. 19 p.

Item does not contain fulltext In 2011 verscheen Een update van de multidisciplinaire richtlijn medische begeleiding van kinderen met Downsyndroom, waarin ook aandacht wordt besteed aan loop- en voetproblemen. Bij deze kinderen komen voetklachten veelvuldig voor. Deze klachten hebben een impact op het dagelijks leven van zowel het kind met downsyndroom als de ouder. Het verminderen van klachten zoals pijn, loopproblemen en het schoeien van deze korte en brede voet, is een uitdaging voor de podotherapeut op zowel schoentechnisch als communicatief gebied. 5 p.

Item does not contain fulltext On the American Speech-Language-Hearing Association Community for Special Interest Group 12, Augmentative and Alternative Communication (AAC), a community member introduced a discussion related to the selection and use of core vocabulary with students with severe intellectual or multiple disabilities. It was questioned whether or not core vocabulary determined in typically developing children was applicable to AAC intervention in these students. The present article reviewed a vast amount of language sample studies related to core vocabulary in both typical and atypical populations. It was concluded that core vocabulary is comparable for both populations in various contexts, with various communication partners, over various topics, and in various modalities of language use. Core vocabulary is thus of high importance for all AAC users, regardless of physical or intellectual disabilities 14 p.