Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome

Department of Psychology, The Children's Hospital of Philadelphia, USA.
Journal of Autism and Developmental Disorders (Impact Factor: 3.34). 09/2005; 35(4):461-70. DOI: 10.1007/s10803-005-5036-9
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In this study, we assessed the presence of autism spectrum disorders (ASD) among children with a confirmed 22q11.2 deletion (n = 98). The children's caregivers completed screening measures of ASD behaviors, and for those whose scores indicated significant levels of these behaviors, a standardized diagnostic interview (Autism Diagnostic Interview-Revised; ADI-R) was administered. Results demonstrated that over 20% of children (n = 22) were exhibiting significant levels of autism spectrum symptoms based on the screening measures. Based upon the ADI-R, 14 children qualified for a diagnosis of an ASD, and for 11 of those children a diagnosis of autism was most appropriate. These findings increase our knowledge of developmental disorders associated with the 22q11.2 deletion and point to avenues for future investigation.

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Available from: Donna M McDonald Mcginn,
    • "Specifically, children with 22q11DS are described as showing more withdrawn behavior, social interaction problems with peers, attention problems, and anxiety problems. This is consistent with several clinical studies in 22q11DS in which high rates of attention deficit disorder with hyperactivity (ADHD) [Niklasson et al., 2001; Gothelf et al., 2005], autism spectrum disorders [Niklasson et al., 2001, 2009; Fine et al., 2005; Antshel et al., 2006; Vorstman et al., 2006] and anxiety and affective disorders [Antshel et al., 2006; Jolin et al., 2009] are reported. There has been some controversy regarding the diagnosis of ASD in 22q11 DS; recent studies have shown that individuals with 22q11 DS and ASD had significant problems in social interaction and communication while stereotyped behaviors were not reported , suggesting a unique type of ASD [Kates et al., 2007; Bruining et al., 2010]. "
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    ABSTRACT: Chromosome 22q11.2 deletion syndrome (22q11.2DS), a neurogenetic condition, is the most common microdeletion syndrome affecting 1 in 2,000-4,000 live births and involving haploinsufficiency of ∼50 genes resulting in a multisystem disorder. Phenotypic expression is highly variable and ranges from severe life-threatening conditions to only a few associated features. Most common medical problems include: congenital heart disease, in particular conotruncal anomalies; palatal abnormalities, most frequently velopharyngeal incompetence (VPI); immunodeficiency; hypocalcemia due to hypoparathyroidism; genitourinary anomalies; severe feeding/gastrointestinal differences; and subtle dysmorphic facial features. The neurocognitive profile is also highly variable, both between individuals and during the course of development. From infancy onward, motor delays (often with hypotonia) and speech/language deficits are commonly observed. During the preschool and primary school ages, learning difficulties are very common. The majority of patients with 22q11.2DS have an intellectual level that falls in the borderline range (IQ 70-84), and about one-third have mild to moderate intellectual disability. More severe levels of intellectual disability are uncommon in children and adolescents but are more frequent in adults. Individuals with 22q11.2DS are at an increased risk for developing several psychiatric disorders including attention deficit with hyperactivity disorder (ADHD), autism spectrum disorder (ASD), anxiety and mood disorders, and psychotic disorders and schizophrenia. In this review, we will focus on the developmental phenotypic transitions regarding cognitive development in 22q11.2DS from early preschool to adulthood, and on the changing behavioral/psychiatric phenotype across age, on a background of frequently complex medical conditions. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part C Seminars in Medical Genetics 05/2015; 169(2). DOI:10.1002/ajmg.c.31435 · 3.91 Impact Factor
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    • "The syndrome is associated with characteristic facial features, congenital heart defects and abnormalities of the palate (McDonald-McGinn et al. 1999). The behavioural phenotype is characterised by executive dysfunction (Bish et al. 2005), attention deficits (Niklasson et al. 2005), social impairments (Shashi et al. 2012), autism spectrum disorder features (Fine et al. 2005) and anxiety disorders (Fung et al. 2010) and there is a significantly increased risk of mood (Green et al. 2009) and psychotic disorders compared with the general population (Murphy et al. 1999). Other features of the disorder can include increased risk of infection (Jawad et al. 2001), neonatal hypocalcaemia (Kitsiou-Tzeli et al. 2005) and recurrent otitis media (Dyce et al. 2002). "
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    ABSTRACT: Background Research suggests children with genetic disorders exhibit greater coping skills when they are aware of their condition and its heritability. While the experiences parents have at diagnosis may influence their decision to disclose the diagnosis to their children, there is little research into this communication. The aim of the current study was to examine the relationship between the diagnosis experience and the disclosure experience for parents of children with developmental disorders of a known genetic aetiology: parents of children with 22q11.2 deletion syndrome (22q11DS) were compared with a group of parents with children affected with other genetic diagnoses, with a similar age of diagnosis (e.g. fragile X syndrome) and a group where diagnosis generally occurs early (i.e. Down syndrome).Method The sample comprised 559 parents and caregivers of children with genetic developmental disorders, and an online survey was utilised. Items from the questionnaire were combined to create variables for diagnosis experience, parental disclosure experience, child's disclosure experience, and parental coping and self-efficacy.ResultsAcross all groups parents reported that the diagnosis experience was negative and often accompanied by a lack of support and appropriate information. Sixty-eight per cent of those in the 22q11DS and 58.3% in the Similar Conditions groups had disclosed the diagnosis to their child, whereas only 32.7% of the Down syndrome group had. Eighty-six per cent of the Down syndrome group felt they had sufficient information to talk to their child compared with 44.1% of the Similar Conditions group and 32.6% of the 22q11DS group. Parents reported disclosing the diagnosis to their child because they did not want to create secrets; and that they considered the child's age when disclosing. In the 22q11DS and Similar Conditions groups, a poor diagnosis experience was significantly associated with negative parental disclosure experiences. In the Similar Conditions group, a poor diagnosis experience was also significantly associated with a more negative child disclosure experience.Conclusions As expected this study highlights how difficult most parents find the diagnosis experience. Importantly, the data indicate that the personal experiences the parents have can have a long-term impact on how well they cope with telling their child about the diagnosis. It is important for clinicians to consider the long-term ramifications of the diagnosis experience and give the parents opportunities; through, for instance, psychoeducation to prepare for telling their child about the diagnosis. Further research is warranted to explore what type of information would be useful for parents to receive.
    Journal of Intellectual Disability Research 07/2014; 59(5). DOI:10.1111/jir.12151 · 2.41 Impact Factor
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    • ") to 98 (Fine et al. 2005), with elevated ADI-R scores in at least 2 domains present in only 14 % of the largest sample (Fine et al. 2005). Elevated ADI-R scores in 2 or more domains were reported in 21 % (Antshel et al. 2007) and 45 % (Vorstman et al. 2006) of the other 2 studies. "
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    ABSTRACT: High prevalence of autism spectrum disorders (ASD) has been reported in 22q11.2DS, although this has been based solely on parent report measures. This study describes the presence of ASD using a procedure more similar to that used in clinical practice by incorporating history (Social Communication Questionnaire) AND a standardized observation measure (Autism Diagnostic Observation Schedule) and suggests that ASD is not as common as previously reported in 22q11.2DS. Differences in methodology, along with comorbid conditions such as anxiety, likely contribute to false elevations in ASD prevalence and information from multiple sources should be included in the evaluation of ASD.
    Journal of Autism and Developmental Disorders 09/2013; DOI:10.1007/s10803-013-1920-x · 3.34 Impact Factor
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