Sensory impairment and head circumference in Fragile X syndrome, Down syndrome and Idiopathic intellectual disability

Purpose The behavioral phenotype of fragile X syndrome (FXS) and intellectual disability (ID) proposed by Hagerman et al. (2009) was primarily based on data from male children and teens. The purpose of this study was to promote a better understanding of how this condition manifests in adults. Design/methodology/approach A total of 18 men of FXS were paired with men with Down syndrome on the basis of age and level of ID. A screening checklist was created on the basis of existing scales and the Hagerman et al. (2009) behavioral phenotype and completed by care providers. Findings Five of the 12 features of the phenotype were significantly more present among men with FXS than in men with Down syndrome. Originality/value This study provides partial confirmation for Hagerman et al.’s (2009) behavioral phenotype of FXS among men with moderate ID and identified some traits that warrant further investigation.

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4. Sign Communication in Persons with an Intellectual Disability or with Cerebral Palsy

Simplified Signs ◽

10.11647/obp.0205.04 ◽

2020 ◽

pp. 93-140

Author(s):

John D. Bonvillian ◽

Nicole Kissane Lee ◽

Tracy T. Dooley ◽

Filip T. Loncke

Keyword(s):

Down Syndrome ◽

Cerebral Palsy ◽

Intellectual Disability ◽

Fragile X Syndrome ◽

Fragile X ◽

Multiple Disabilities ◽

Special Populations ◽

Deaf Students ◽

The West ◽

Alternative Means

In Chapter 4, the authors begin an in-depth discussion of the use of signs with special populations, including an early study that occurred in the West of England in the 1840s with deaf students with intellectual disabilities. Various types of intellectual disability are identified, including fragile X syndrome, Williams syndrome, Down syndrome, and Angelman syndrome. The successes and failures of speech-based and sign-based interventions are covered for individuals with these syndromes (particularly the latter two) as well as in persons with multiple disabilities. The authors next move on to a discussion of the relatively sparse research related to teaching signs to children who have cerebral palsy. Recommendations for enhancing the sign-learning environment are provided so that all persons who use signs as an augmentative or alternative means of communication may derive the greatest benefit from their communicative interactions. In addition to maximizing the positive atmosphere in which signing individuals interact with others at school, at home, and in public, the authors suggest that the types of signs employed may also have an impact on whether or not signing is successful.

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Sleep phenotypes of intellectual disability: A polysomnographic evaluation in subjects with Down syndrome and Fragile-X syndrome

Clinical Neurophysiology ◽

10.1016/j.clinph.2008.03.004 ◽

2008 ◽

Vol 119 (6) ◽

pp. 1242-1247 ◽

Cited By ~ 66

Author(s):

Silvia Miano ◽

Oliviero Bruni ◽

Maurizio Elia ◽

Lidia Scifo ◽

Arianna Smerieri ◽

...

Keyword(s):

Down Syndrome ◽

Intellectual Disability ◽

Fragile X Syndrome ◽

Fragile X

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A Comparative Study of Sociability in Angelman, Cornelia de Lange, Fragile X, Down and Rubinstein Taybi Syndromes and Autism Spectrum Disorder

American Journal on Intellectual and Developmental Disabilities ◽

10.1352/1944-7558-121.6.465 ◽

2016 ◽

Vol 121 (6) ◽

pp. 465-486 ◽

Cited By ~ 14

Author(s):

Joanna Moss ◽

Lisa Nelson ◽

Laurie Powis ◽

Jane Waite ◽

Caroline Richards ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Down Syndrome ◽

Intellectual Disability ◽

Fragile X Syndrome ◽

Neurodevelopmental Disorders ◽

Fragile X ◽

Selective Mutism ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Cornelia De Lange

Abstract Few comparative studies have evaluated the heterogeneity of sociability across a range of neurodevelopmental disorders. The Sociability Questionnaire for People with Intellectual Disability (SQID) was completed by caregivers of individuals with Cornelia de Lange (n = 98), Angelman (n = 66), Fragile X (n = 142), Down (n = 117) and Rubinstein Taybi (n = 88) syndromes and autism spectrum disorder (ASD; n = 107). Between groups and age-band (<12yrs; 12–18yrs; >18yrs) comparisons of SQID scores were conducted. Rates of behaviors indicative of selective mutism were also examined. Fragile X syndrome achieved the lowest SQID scores. Cornelia de Lange, ASD, and Fragile X groups scored significantly lower than Angelman, Down and Rubinstein Taybi groups. Selective mutism characteristics were highest in Cornelia de Lange (40%) followed by Fragile X (17.8%) and ASD (18.2%). Age-band differences were identified in Cornelia de Lange and Down syndrome.

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