Behavior in preschool children with the 22q11.2 deletion syndrome (original) (raw)
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Linguistic and Nonverbal Abilities over Time in a Child Case of 22q11 Deletion Syndrome
2017
The aim of this study is to profile the cognitive–linguistic performance of a male child (P.I.) with 22q11 deletion syndrome (22q11DS). Specifically, receptive and expressive language performance and nonverbal IQ (NVIQ) are described at two different time points—when P.I. was 6 and 10 years of age, respectively. Using case-based methodology, P.I.’s NVIQ and performance on global and structured language tasks are compared to typically developing children of the same chronological age and school-aged children with specific language impairment (SLI). The results show no improvement in NVIQ or vocabulary, but his morphosyntactic abilities did improve over time. The findings are discussed in relation to two hypotheses, either that the profile of language impairment in children with 22q11DS is distinctive to the syndrome or that there is co-morbidity with SLI. This is particularly important for speech–language therapists who have a primary role in diagnosing communication deficits and pro...
Parental report on socio-communicative behaviours in children with 22q11.2 deletion syndrome
Journal of Intellectual & Developmental Disability, 2016
Background Children with 22q11.2 deletion syndrome (22q11.2DS) are reported to have socio-communicative impairments. Although many of these children are diagnosed with intellectual disability (ID) and/or autism spectrum disorder (ASD), these populations are seldom used as control groups. Hence, information regarding syndrome-specific sociocommunicative challenges is lacking. Method Parental concerns regarding everyday communication were investigated by means of the Children's Communication Checklist-2-NL (Geurts, 2007). Twenty children with 22q11.2DS (chronological age 6 years-13 years 3 months) were compared to twenty-one children with idiopathic ID and twenty-three children with idiopathic ID and comorbid ASD. All groups were matched for fluid intelligence (Gf), chronological age and core language scores. Results Neglect or inadequate use of context information was more prevalent in children with 22q11.2DS than in children with idiopathic ID. Nonverbal communication seemed less impaired than in children with ID+ASD. Conclusion Pragmatic language skills and developmental trajectories in children with 22q11.2DS merit further investigation. allow us to describe subtle group differences. The following questions are addressed: (1) Do parents of children with 22q11.2DS report specific socio-communicative challenges in comparison to parents of children with ID, but different from those reported by parents of children with ID+ASD? (2) Do parents of children with 22q11.2DS and comorbid ASD diagnosis (n = 5, 25%) have different concerns regarding communicative behaviours than those of parents of children with 22q11.2DS only and parents of children with idiopathic ID+ASD? Methods Research design and matching procedure The 64 participants selected in the present study were a subgroup of an initial cohort consisting of 27 children with 22q11.2DS, 31 children with ID and 34 children with ID+ASD, all evaluated by means of a comprehensive language and cognitive assessment. A crosssectional group-matched research design was chosen. Exclusion criteria for all participants were prematurity (i.e. birth before 37 weeks), given its proven impact on language development (Barre, Morgan, Doyle, & Anderson, 2011; Crosbie, Holm, Wandschneider, & Hemsley, 2011), and severe sensorimotor deficits (hearing loss ≥ 40 dB HL or severe visual impairments). In addition, only monolingual Dutch-speaking children were included in the study. If this criterion was not met, a minimum of 3 years of full-time Dutch education needed to be demonstrated. This inclusion criterion was applied because of the impact of a multilingual environment on language development (Cummins, 2000; Paradis, Genessee, & Crago, 2011). Children with 22q11.2DS, were selected and contacted by the Center for Human Genetics (University Hospital Leuven, UZ Leuven). Children with idiopathic ID with or without ASD were recruited in several special needs schools in Flanders, Belgium. Children were first selected for their chronological age (primary school age, minimum age 6 years old) and the fact that no known genetic disorder was reported in the parents' survey, medical record or after an examination by a medical doctor. Children diagnosed with comorbid developmental disorders (AD(H)D, ASD) were excluded from the idiopathic ID control group. In the second control group, the ID+ASD group, the diagnosis of ASD had to be based on a diagnostic protocol applying gold standard measures, ADOS (Lord et al., 1999) and the ADI-R (Rutter et al., 2003) carried out by a child psychiatrist according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders (4 th ed., DSM-IV; American
Communication issues in 22q11.2 deletion syndrome: Children at risk
Genetics in Medicine, 2001
Purpose: The purpose of this investigation is to describe the communication profile of children with the 22q11.2 deletion syndrome from infancy through school age and to examine the influence of other medical aspects, such as palate anomalies, learning disorders, and cardiac defects of the syndrome to communication. Methods:
Cognitive development in children with 22q11.2 deletion syndrome
The British Journal of Psychiatry, 2012
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Journal of Learning Disabilities, 2012
Chromosome 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion in humans. Nonverbal learning disability (NLD) has been used to describe the strengths and deficits of children with 22q11DS, but the applicability of the label for this population has seldom been systematically evaluated. The goal of the current study was to address how well the NLD diagnosis characterizes children and adolescents with 22q11DS. A total of 74 children and adolescents with 22q11DS were given neurocognitive, socioemotional, and academic assessments to measure aspects of NLD. Of the cohort, 20% met at least 7 of 9 assessed criteria for NLD; 25% showed verbal skills exceeding their nonverbal skills as assessed by an IQ test; and 24% showed the good rote verbal capacity commonly associated with NLD. Hypothesizing that if the entire cohort did not show consistent NLD characteristics, the descriptor might be more accurate for a distinct subgroup, the authors used latent class analysis to divide participants into three subgroups. However, the lines along which the groups broke out were more related to general functioning level than to NLD criteria. All three groups showed a heightened risk for psychiatric illness, highlighting the importance of careful mental health monitoring for all children with 22q11DS.
Neurodevelopmental outcome in 22q11.2 deletion syndrome and management
American journal of medical genetics. Part A, 2018
The 22q11.2 deletion syndrome (22q11.2 DS) places affected individuals at an increased risk for neurodevelopmental/cognitive, behavioral and social-emotional difficulties. Poor cognitive functioning and intellectual disabilities, attention and executive functioning deficits, learning disorders, emotional dysregulation and impairments in social processing are common among individuals with 22q11.2 DS. Identifying risk and protective/resilience factors that can be detected in early life and can predict neurodevelopmental outcomes for people with 22q11.2 DS is of significant clinical relevance and might allow for early detection and intervention. Given the focus of this review, we will discuss the possible contributing factors that influence the neurodevelopmental outcome in 22q1.2 DS, the cognitive phenotype in 22q11.2 DS, the different developmental trajectories across life span, and the implications for clinical practice and management.
Child Neuropsychology, 2005
Previous reports of cognitive functioning in children with the 22q11 Deletion Syndrome have reported marked variability in IQ and achievement subtest scores. Studies have begun to explore neuropsychological function in 22q11 DS however results are inconsistent and the profile incomplete. We assessed 40 children ages 5-12 with 22q11 DS. Consistent with past results, visual-spatial memory was significantly lower than verbal memory. Differentially lowered scores were found only in visual attention, working memory and motor function. Contrary with some past results quantitative, verbal ability, and visual spatial memory scores were within 1 SD from the standardization sample mean. Motor behavior, not typically discussed with regard to 22q11 DS school-age children, may be critical to incorporate in neurocognitive studies of children with 22q11 DS. Implications of these findings are considered with regard to past results.
American Journal of Speech-Language Pathology
Purpose: Young children with 22q11.2 deletion syndrome (22q11DS) often have impaired language development and poor speech intelligibility. Here, we report a comprehensive overview of standardized language assessment in a relatively large sample of preschool-aged children with 22q11DS. We furthermore explored whether speech ability explained variability in language skills. Method: Forty-four monolingual Dutch preschoolers (3–6 years) with a confirmed genetic 22q11DS diagnosis participated in this prospective cohort study. Standardized tests (Clinical Evaluation of Language Fundamentals Preschool-2-NL and Peabody Picture Vocabulary Test-III-NL) were administered. Speech intelligibility was rated by two expert speech and language therapists using a standardized procedure. Results: Most children had impaired language skills across all tested domains. The composite score for expressive language was significantly lower than that for receptive language, but the two were strongly correlated...