Social functioning and Autism Spectrum Disorders (ASD)

Social functioning and Autism Spectrum Disorders (ASD)

ASD, social anxiety and mood disorders are common mental health difficulties in individuals with CdLS (¹⁰⁹,¹³⁷,¹⁵²,¹⁵⁴,¹⁶⁵,¹⁶⁶,¹⁶⁷,¹⁶⁸,¹⁶⁹). These mental health difficulties do not seem to be linked with the specific gene or genetic mutation that has caused CdLS (¹⁰,¹³⁷,¹⁴⁸,¹⁴⁹,¹⁶⁹). Because most individuals with CdLS are unable to reliably report their own discomfort, behaviour or feelings, it can be difficult to assess difficulties that they may be experiencing. Often, difficulties are detected from observation of an individual’s behaviour or reports of their behaviour from parents or carers. Behaviours suggesting difficulties could include eye-gaze avoidance, pushing away and screaming (⁸⁰,¹⁷⁰,¹⁷¹). These behaviours are often associated with the social setting and can sometimes be associated with parental stress (¹⁰⁹,¹³⁷).

Approximately just under half of all individuals with CdLS display symptoms of ASD (¹⁵⁹). The three core characteristics of ASD include:

• Poor or unusual social interaction skills
• Delayed development or difficulties in verbal and non-verbal communication (e.g. gestures, pointing, showing, etc)
• The presence of repetitive behavior

ASD has been associated with poorer adaptive behaviour skills in individuals with CdLS caused by an NIPBL mutation (¹⁰). ASD should be considered when individuals with CdLS display social, communication and behavioural impairments beyond what would be expected for their cognitive ability.
Symptoms of ASD in CdLS are not always associated with an individual’s degree of intellectual disability (¹⁵⁰,¹⁷²,¹⁷³). Research has shown that when compared to individuals with ASD, individuals with CdLS show a lot of similarities but also small differences in specific areas of communication and social interaction (¹⁷³). These small differences especially concern social anxiety (worry), extreme shyness and selective mutism (not speaking in social situations where there is an expectation for speaking, e.g. at school), which are all more common in CdLS (²,⁶⁵,¹⁰⁹,¹⁵⁰,¹⁵²). Differences in communication and social interaction between CdLS and ASD become clearer with age and with increased social demand. Social motivation, social communication and enjoyment are similar in both CdLS and ASD (¹⁷⁵).

A clinical diagnosis of ASD should be considered in all individuals with CdLS throughout life, taking into account atypical presentations (R56). Assessment for ASD in CdLS may use standardised ASD diagnostic tools. It is also important that detailed observations are carried out to accurately assess ASD and social functioning, and to understand the level and characteristics of communicative, adaptive and language abilities in an individual with CdLS (R57). ASD-specific interventions should be considered in all individuals with CdLS, however, it is important that interventions to aid social functioning are sensitive to CdLS-specific aspects of communication and social interaction (⁶⁵,⁶⁶,¹⁷⁴) (R58).

Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam

_{Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O’Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. and Hennekam, R. C. (2018).}

Source:

Diagnosis and management in Cornelia de Lange Syndrome: First international consensus statement. Nature Reviews Genetics, 19, 649-666, published on 11 jul. 2018

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Senest ændret af Gerritjan Koekkoek den 2022/09/29 16:10

Oprettet af Gerritjan Koekkoek den 2019/03/27 15:09