RESUMO
BACKGROUND: The Coronavirus Disease 2019 (COVID-19) pandemic elevated the risk for mental health problems in pregnant women, thereby increasing the risk for long-term negative consequences for mother and child well-being. There was an immediate need for easily accessible interventions for pregnant women experiencing elevated levels of pandemic related stress. METHODS: A three-session intervention "Online Communities" (OC) was developed at the beginning of the Dutch lockdown, and implemented by a team of midwives and psychologists specialized in Infant Mental Health. Pretest (N = 34) and posttest (N = 17) measurements of depressive symptoms, worries about COVID-19 and worries in general, and mother-to-infant bonding were administered, as well as a posttest evaluation. RESULTS: At pretest, the OC group was compared to two reference groups of pregnant women from an ongoing pregnancy cohort study: a COVID-19 (N = 209) and pre-COVID-19 reference group (N = 297). OC participants had significantly more depressive symptoms than both reference groups, and less positive feelings of bonding than the COVID-19 but not the pre-COVID-19 reference group. Compared to pretest, significant decreases in depressive symptoms (with significantly less participants scoring above cut-off) and worries about COVID-19 (large effect sizes) and worries in general (moderate to large effect size) were found at posttest for the OC participants. No significant improvement was found in bonding. Participants rated the intervention positively. CONCLUSIONS: The current study provides initial evidence supporting the idea that OC is a promising and readily accessible intervention for pregnant women experiencing stress due to the COVID-19 pandemic, and possibly also applicable to other stressors. TRIAL REGISTRATION: This intervention was registered in the Netherlands Trial Registration (registration number Trial NL8842 , registration date 18/08/2020).
Assuntos
COVID-19 , Gestantes , COVID-19/epidemiologia , COVID-19/prevenção & controle , Estudos de Coortes , Controle de Doenças Transmissíveis , Feminino , Humanos , Lactente , Mães/psicologia , Pandemias , GravidezRESUMO
BACKGROUND: Decline in cognitive functioning precedes the first psychotic episode in the course of schizophrenia and is considered a hallmark symptom of the disorder. Given the low incidence of schizophrenia, it remains a challenge to investigate whether cognitive decline coincides with disease-related changes in brain structure, such as white matter abnormalities. The 22q11.2 deletion syndrome (22q11DS) is an appealing model in this context, as 25% of patients develop psychosis. Furthermore, we recently showed that cognitive decline also precedes the onset of psychosis in individuals with 22q11DS. Here, we investigate whether the early cognitive decline in patients with 22q11DS is associated with alterations in white matter microstructure. METHODS: We compared the fractional anisotropy (FA) of white matter in 22q11DS patients with cognitive decline [n = 16; -18.34 (15.8) VIQ percentile points over 6.80 (2.39) years] to 22q11DS patients without cognitive decline [n = 18; 17.71 (20.17) VIQ percentile points over 5.27 (2.03) years] by applying an atlas-based approach to diffusion-weighted imaging data. RESULTS: FA was significantly increased (p < 0.05, FDR) in 22q11DS patients with a cognitive decline in the bilateral superior longitudinal fasciculus, the bilateral cingulum bundle, all subcomponents of the left internal capsule and the left superior frontal-occipital fasciculus as compared with 22q11DS patients without cognitive decline. CONCLUSIONS: Within 22q11DS, the early cognitive decline is associated with microstructural differences in white matter. At the mean age of 17.8 years, these changes are reflected in increased FA in several tracts. We hypothesize that similar brain alterations associated with cognitive decline take place early in the trajectory of schizophrenia.
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Disfunção Cognitiva , Síndrome de DiGeorge , Transtornos Psicóticos , Substância Branca/patologia , Adolescente , Adulto , Criança , Disfunção Cognitiva/diagnóstico por imagem , Disfunção Cognitiva/etiologia , Disfunção Cognitiva/patologia , Disfunção Cognitiva/fisiopatologia , Estudos de Coortes , Síndrome de DiGeorge/complicações , Síndrome de DiGeorge/diagnóstico por imagem , Síndrome de DiGeorge/patologia , Síndrome de DiGeorge/fisiopatologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Transtornos Psicóticos/diagnóstico por imagem , Transtornos Psicóticos/etiologia , Transtornos Psicóticos/patologia , Transtornos Psicóticos/fisiopatologia , Substância Branca/diagnóstico por imagem , Adulto JovemRESUMO
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.
Assuntos
Síndrome de DiGeorge/genética , Síndrome de DiGeorge/terapia , Fatores Etários , Cognição , Feminino , Humanos , Masculino , FenótipoRESUMO
The 22q11.2 deletion syndrome is caused by non-allelic homologous recombination events during meiosis between low copy repeats (LCR22) termed A, B, C, and D. Most patients have a typical LCR22A-D (AD) deletion of 3 million base pairs (Mb). In this report, we evaluated IQ scores in 1,478 subjects with 22q11.2DS. The mean of full scale IQ, verbal IQ, and performance IQ scores in our cohort were 72.41 (standard deviation-SD of 13.72), 75.91(SD of 14.46), and 73.01(SD of 13.71), respectively. To investigate whether IQ scores are associated with deletion size, we examined individuals with the 3 Mb, AD (n = 1,353) and nested 1.5 Mb, AB (n = 74) deletions, since they comprised the largest subgroups. We found that full scale IQ was decreased by 6.25 points (p = .002), verbal IQ was decreased by 8.17 points (p = .0002) and performance IQ was decreased by 4.03 points (p = .028) in subjects with the AD versus AB deletion. Thus, individuals with the smaller, 1.5 Mb AB deletion have modestly higher IQ scores than those with the larger, 3 Mb AD deletion. Overall, the deletion of genes in the AB region largely explains the observed low IQ in the 22q11.2DS population. However, our results also indicate that haploinsufficiency of genes in the LCR22B-D region (BD) exert an additional negative impact on IQ. Furthermore, we did not find evidence of a confounding effect of severe congenital heart disease on IQ scores in our cohort.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 22 , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/psicologia , Adolescente , Adulto , Criança , Feminino , Humanos , Deficiência Intelectual/genética , Testes de Inteligência , MasculinoRESUMO
Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic nonallelic homologous recombination events between low-copy repeats, also known as segmental duplications. Although previous studies exist, each was of small size, and it remains to be determined whether there are parent-of-origin biases for the de novo 22q11.2 deletion. To address this question, we genotyped a total of 389 DNA samples from 22q11DS-affected families. A total of 219 (56%) individuals with 22q11DS had maternal origin and 170 (44%) had paternal origin of the de novo deletion, which represents a statistically significant bias for maternal origin (p = 0.0151). Combined with many smaller, previous studies, 465 (57%) individuals had maternal origin and 345 (43%) had paternal origin, amounting to a ratio of 1.35 or a 35% increase in maternal compared to paternal origin (p = 0.000028). Among 1,892 probands with the de novo 22q11.2 deletion, the average maternal age at time of conception was 29.5, and this is similar to data for the general population in individual countries. Of interest, the female recombination rate in the 22q11.2 region was about 1.6-1.7 times greater than that for males, suggesting that for this region in the genome, enhanced meiotic recombination rates, as well as other as-of-yet undefined 22q11.2-specific features, could be responsible for the observed excess in maternal origin.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 22 , Síndrome de DiGeorge/genética , Adulto , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , MasculinoRESUMO
The role of rare genetic variants, in particular copy number variants (CNVs), in the etiology of neurodevelopmental disorders is becoming increasingly clear. While the list of these disorder-related CNVs continues to lengthen, it has also become clear that in nearly all genetic variants the proportion of carriers who express the associated phenotype is far from 100%. To understand this variable penetrance of CNVs it is important to realize that even the largest CNVs represent only a tiny fraction of the entire genome. Therefore, part of the mechanism underlying the variable penetrance of CNVs is likely the modulatory impact of the rest of the genome. In the present study we used the 22q11DS as a model to examine whether the observed penetrance of intellectual impairment-one of the main phenotypes associated with 22q11DS-is modulated by the intellectual level of their parents, for which we used the parents' highest level of education as a proxy. Our results, based on data observed in 171 children with 22q11DS in the age range of 5-15 years, showed a significant association between estimated parental cognitive level and intelligence in offspring (full scale, verbal and performance IQ), with the largest effect size for verbal IQ. These results suggest that possible mechanisms involved in the variable penetrance observed in CNVs include the impact of genetic background and/or environmental influences. © 2016 Wiley Periodicals, Inc.
Assuntos
Anormalidades Múltiplas/genética , Variações do Número de Cópias de DNA/fisiologia , Síndrome de DiGeorge/genética , Inteligência/genética , Adolescente , Criança , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 22/genética , Variações do Número de Cópias de DNA/genética , Feminino , Humanos , Masculino , Transtornos Mentais/genética , Países Baixos , Pais , Penetrância , Deleção de Sequência/genéticaRESUMO
Children with the 22q11.2 deletion syndrome (22q11DS) are at an increased risk of psychiatric problems from pre-adolescence; little is known, however, about behavioral problems at a preschool age and the relationship between speech and behavior in this group. Parents of 90 children (aged 1.42-5.99 years) with 22q11DS filled out the Child Behavior Checklist, documenting behaviors including speech problems. Their profiles were compared with those of a comparison group consisting of 33 children with nonsyndromic orofacial clefts without 22q11DS, since both children with 22q11DS and children with clefts are expected to have speech problems. In the 22q11DS group, data on intelligence was acquired by means of formal tests. Parents of children with 22q11DS reported significantly higher mean scores on withdrawn behavior, affective problems and pervasive developmental problems compared to children with nonsyndromic clefts. Approximately 30% of children with 22q11DS had a score above the 97th percentile on at least one of the behavior subscales, indicating psychopathology. In children with 22q11DS, the reported behavioral problems were not associated with speech problems. Behavioral problems were found in 30% of young children with 22q11DS and were unlikely to be caused by speech problems. Within the 22q11DS group, behavioral problems were not related to the degree of cognitive impairment. This shows that many children with 22q11DS, known to be at an increased risk of psychiatric problems from pre-adolescence, already show behavioral problems before the age of 6 years.
Assuntos
Transtornos do Comportamento Infantil/diagnóstico , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/psicologia , Transtornos do Comportamento Infantil/genética , Pré-Escolar , Síndrome de DiGeorge/complicações , Feminino , Humanos , Lactente , Masculino , Transtornos Mentais/complicações , Transtornos Mentais/genética , Transtornos Mentais/psicologia , Estudos Prospectivos , Fatores de Risco , Distúrbios da Fala/complicações , Distúrbios da Fala/genética , Distúrbios da Fala/psicologia , Inquéritos e QuestionáriosRESUMO
BACKGROUND: People with 22q11.2 deletion syndrome (velo-cardio-facial syndrome) have a 30-fold risk of developing schizophrenia. In the general population the schizophrenia phenotype includes a cognitive deficit and a decline in academic performance preceding the first episode of psychosis in a subgroup of patients. Findings of cross-sectional studies suggest that cognitive abilities may decline over time in some children with 22q11.2 deletion syndrome. If confirmed longitudinally, this could indicate that one or more genes within 22q11.2 are involved in cognitive decline. AIMS: To assess longitudinally the change in IQ scores in children with 22q11.2 deletion syndrome. METHOD: Sixty-nine children with the syndrome were cognitively assessed two or three times at set ages 5.5 years, 7.5 years and 9.5 years. RESULTS: A mean significant decline of 9.7 Full Scale IQ points was found between ages 5.5 years and 9.5 years. In addition to the overall relative decline that occurred when results were scored according to age-specific IQ norms, in 10 out of a group of 29 children an absolute decrease in cognitive raw scores was found between ages 7.5 years and 9.5 years. The decline was not associated with a change in behavioural measures. CONCLUSIONS: The finding of cognitive decline can be only partly explained as the result of 'growing into deficit'; about a third of 29 children showed an absolute loss of cognitive faculties. The results underline the importance of early psychiatric screening in this population and indicate that further study of the genes at the 22q11.2 locus may be relevant to understanding the genetic basis of early cognitive deterioration.
Assuntos
Transtornos Cognitivos/genética , Deficiências do Desenvolvimento/genética , Síndrome de DiGeorge/psicologia , Inteligência/genética , Criança , Pré-Escolar , Estudos Transversais , Escolaridade , Feminino , Humanos , Testes de Inteligência , Masculino , Variações Dependentes do Observador , Estudos ProspectivosRESUMO
Play is of vital importance for the healthy development of children. From a developmental perspective, play offers ample physical, emotional, cognitive, and social benefits. It allows children and adolescents to develop motor skills, experiment with their (social) behavioural repertoire, simulate alternative scenarios, and address the various positive and negative consequences of their behaviour in a safe and engaging context. Children with a chronic or life-threatening disease may face obstacles that negatively impact play and play development, possibly impeding developmental milestones, beyond the actual illness itself. Currently, there is limited understanding of the impact of (1) aberrant or suppressed play and (2) play-related interventions on the development of chronic diseased children. We argue that stimulating play behaviour enhances the adaptability of a child to a (chronic) stressful condition and promotes cognitive, social, emotional and psychomotor functioning, thereby strengthening the basis for their future health. Systematic play research will help to develop interventions for young patients, to better cope with the negative consequences of their illness and stimulate healthy development.
Assuntos
Adaptação Psicológica , Doença Crônica/psicologia , Jogos e Brinquedos/psicologia , Animais , Criança , Desenvolvimento Infantil , Humanos , Psicologia da CriançaRESUMO
OBJECTIVE: Chromosome 22q11.2 deletion syndrome (22q11.2DS) is associated with a more than 20-fold increased risk for developing schizophrenia. The aim of this study was to identify additional genetic factors (i.e., "second hits") that may contribute to schizophrenia expression. METHOD: Through an international consortium, the authors obtained DNA samples from 329 psychiatrically phenotyped subjects with 22q11.2DS. Using a high-resolution microarray platform and established methods to assess copy number variation (CNV), the authors compared the genome-wide burden of rare autosomal CNV, outside of the 22q11.2 deletion region, between two groups: a schizophrenia group and those with no psychotic disorder at age ≥25 years. The authors assessed whether genes overlapped by rare CNVs were overrepresented in functional pathways relevant to schizophrenia. RESULTS: Rare CNVs overlapping one or more protein-coding genes revealed significant between-group differences. For rare exonic duplications, six of 19 gene sets tested were enriched in the schizophrenia group; genes associated with abnormal nervous system phenotypes remained significant in a stepwise logistic regression model and showed significant interactions with 22q11.2 deletion region genes in a connectivity analysis. For rare exonic deletions, the schizophrenia group had, on average, more genes overlapped. The additional rare CNVs implicated known (e.g., GRM7, 15q13.3, 16p12.2) and novel schizophrenia risk genes and loci. CONCLUSIONS: The results suggest that additional rare CNVs overlapping genes outside of the 22q11.2 deletion region contribute to schizophrenia risk in 22q11.2DS, supporting a multigenic hypothesis for schizophrenia. The findings have implications for understanding expression of psychotic illness and herald the importance of whole-genome sequencing to appreciate the overall genomic architecture of schizophrenia.
Assuntos
Transtorno do Espectro Autista/genética , Transtorno Autístico/genética , Transtornos Cromossômicos/genética , Síndrome de DiGeorge/genética , Deficiência Intelectual/genética , Esquizofrenia/genética , Adulto , Transtorno do Espectro Autista/psicologia , Transtorno Autístico/psicologia , Deleção Cromossômica , Transtornos Cromossômicos/psicologia , Cromossomos Humanos Par 16/genética , Variações do Número de Cópias de DNA , Síndrome de DiGeorge/psicologia , Feminino , Humanos , Deficiência Intelectual/psicologia , Masculino , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: To examine psychopathology and influence of intelligence level on psychiatric symptoms in children with the 22q11.2 deletion syndrome (22q11DS). METHOD: Sixty patients, ages 9 through 18 years, were evaluated. Assessments followed standard protocols, including structured and semistructured interviews of parents, videotaped psychiatric interview, and intelligence assessment of the child. Intelligence level, psychiatric symptoms, and classification provided the main outcome. RESULTS: High rates of autism spectrum disorders (30 of 60, 50.0%) and psychotic symptoms (16 of 60, 26.7%) were found in this sample. In 7 of 60 (11.7%), the psychotic symptoms interfered with behavior and caused considerable distress. In these cases, the diagnosis of a psychotic disorder was applied. The average age of the children with psychotic symptoms at time of assessment was 14.2 years. Although it is likely that the high rate of psychopathology in this sample is to some extent associated with the lower level of cognitive function, a major effect of the degree of cognitive impairment on psychiatric morbidity was not found. CONCLUSION: Autism spectrum disorders and subthreshold autistic symptomatology are common in children with 22q11DS. Furthermore, a high rate of psychosis and psychotic symptoms is found in this childhood sample, suggesting an early onset of psychosis in 22q11DS patients. Autistic and psychotic disorders should be considered to be main elements of the behavioral phenotype of 22q11DS children.
Assuntos
Transtorno Autístico/epidemiologia , Transtorno Autístico/genética , Cromossomos Humanos Par 22/genética , Deleção de Genes , Transtornos Psicóticos/epidemiologia , Adolescente , Adulto , Transtorno Autístico/diagnóstico , Criança , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Humanos , Masculino , Prevalência , Transtornos Psicóticos/diagnóstico , Transtornos Psicóticos/psicologiaRESUMO
Intervention strategies in adolescents at ultra high-risk (UHR) for psychosis are promising for reducing conversion to overt illness, but have only limited impact on functional outcome. Recent studies suggest that cognition does not further decline during the UHR stage. As social and cognitive impairments typically develop before the first psychotic episode and even years before the UHR stage, prevention should also start much earlier in the groups at risk for schizophrenia and other psychiatric disorders. Early intervention strategies could aim to improve stress resilience, optimize brain maturation, and prevent or alleviate adverse environmental circumstances. These strategies should urgently be tested for efficacy: the prevalence of ~1% implies that yearly ~22 in every 100,000 people develop overt symptoms of this illness, despite the fact that for many of them-e.g., children with an affected first-degree family member or carriers of specific genetic variants-increased risk was already identifiable early in life. Our current ability to recognize several risk groups at an early age not only provides an opportunity, but also implies a clinical imperative to act. Time is pressing to investigate preventive interventions in high-risk children to mitigate or prevent the development of schizophrenia and related psychiatric disorders.
RESUMO
Patients with the 22q11-deletion syndrome (22q11DS) are at an increased risk of developing schizophrenia. Besides the effects of genetic variation, environmental factors could also be important in modifying the risk of schizophrenia in 22q11DS patients. In particular, previous studies have shown the importance of stress as a precipitating factor of psychosis. An incongruence between the perceived and actual severity of behavioral and cognitive domains could lead caregivers, and even the children themselves, to make demands that are insufficiently adapted to the child's abilities, causing stress and anxiety. Here, we investigate whether such diagnostic discrepancies are indeed present by comparing parent and teacher reports on behavioral concerns in children with 22q11DS. Behavioral questionnaires (CBCL and TRF) were prepared for both parents and teachers of 146 children with 22q11DS. We found that in line with previous reports, internalizing behavior was more frequently reported than externalizing behavior. While the behavioral profiles reported by parents and teachers were remarkably similar, the teachers' ratings were significantly lower (Total problem score p = .002). Age and IQ were not significantly associated with the severity of reported concerns. Our results indicate that indeed a disparity often exists between parents' and teachers' perceptions of the severity of a child's behavioral deficits. This may result in (substantially) different demands and expectations being placed on the child from the two fronts. We speculate that the stress resulting from this lack of cohesion between parents and teachers could precipitate, at least in some 22q11DS children, the emergence of psychosis.
Assuntos
Síndrome da Deleção 22q11/fisiopatologia , Transtornos do Comportamento Infantil/fisiopatologia , Pais , Fenótipo , Professores Escolares , Índice de Gravidade de Doença , Síndrome da Deleção 22q11/complicações , Síndrome da Deleção 22q11/diagnóstico , Adolescente , Criança , Transtornos do Comportamento Infantil/diagnóstico , Transtornos do Comportamento Infantil/etiologia , Pré-Escolar , Feminino , Humanos , MasculinoRESUMO
IMPORTANCE: Patients with 22q11.2 deletion syndrome (22q11DS) have an elevated (25%) risk of developing schizophrenia. Recent reports have suggested that a subgroup of children with 22q11DS display a substantial decline in cognitive abilities starting at a young age. OBJECTIVE: To determine whether early cognitive decline is associated with risk of psychotic disorder in 22q11DS. DESIGN, SETTING, AND PARTICIPANTS: Prospective longitudinal cohort study. As part of an international research consortium initiative, we used the largest data set of intelligence (IQ) measurements in patients with 22q11DS reported to date to investigate longitudinal IQ trajectories and the risk of subsequent psychotic illness. A total of 829 patients with a confirmed hemizygous 22q11.2 deletion, recruited through 12 international clinical research sites, were included. Both psychiatric assessments and longitudinal IQ measurements were available for a subset of 411 patients (388 with ≥1 assessment at age 8-24 years). MAIN OUTCOMES AND MEASURES: Diagnosis of a psychotic disorder, initial IQ, longitudinal IQ trajectory, and timing of the last psychiatric assessment with respect to the last IQ test. RESULTS: Among 411 patients with 22q11DS, 55 (13.4%) were diagnosed as having a psychotic disorder. The mean (SD) age at the most recent psychiatric assessment was 16.1 (6.2) years. The mean (SD) full-scale IQ at first cognitive assessment was lower in patients who developed a psychotic disorder (65.5 [12.0]) compared with those without a psychotic disorder (74.0 [14.0]). On average, children with 22q11DS showed a mild decline in IQ (full-scale IQ, 7.04 points) with increasing age, particularly in the domain of verbal IQ (9.02 points). In those who developed psychotic illness, this decline was significantly steeper (P < .001). Those with a negative deviation from the average cognitive trajectory observed in 22q11DS were at significantly increased risk for the development of a psychotic disorder (odds ratio = 2.49; 95% CI, 1.24-5.00; P = .01). The divergence of verbal IQ trajectories between those who subsequently developed a psychotic disorder and those who did not was distinguishable from age 11 years onward. CONCLUSIONS AND RELEVANCE: In 22q11DS, early cognitive decline is a robust indicator of the risk of developing a psychotic illness. These findings mirror those observed in idiopathic schizophrenia. The results provide further support for investigations of 22q11DS as a genetic model for elucidating neurobiological mechanisms underlying the development of psychosis.
Assuntos
Transtornos Cognitivos/psicologia , Síndrome de DiGeorge/psicologia , Transtornos Psicóticos/psicologia , Adolescente , Fatores Etários , Criança , Cromossomos Humanos Par 22/genética , Transtornos Cognitivos/complicações , Síndrome de DiGeorge/complicações , Feminino , Humanos , Testes de Inteligência , Masculino , Testes Neuropsicológicos , Estudos Prospectivos , Transtornos Psicóticos/complicações , Fatores de Risco , Adulto JovemRESUMO
OBJECTIVE: Chromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated with high rates of schizophrenia and other psychiatric conditions. The authors report what is to their knowledge the first large-scale collaborative study of rates and sex distributions of psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome. The associations among psychopathology, intellect, and functioning were examined in a subgroup of participants. METHOD: The 1,402 participants with 22q11.2 deletion syndrome, ages 668 years, were assessed for psychiatric disorders with validated diagnostic instruments. Data on intelligence and adaptive functioning were available for 183 participants ages 6 to 24 years. RESULTS: Attention deficit hyperactivity disorder (ADHD) was the most frequent disorder in children (37.10%) and was overrepresented in males. Anxiety disorders were more prevalent than mood disorders at all ages, but especially in children and adolescents. Anxiety and unipolar mood disorders were overrepresented in females. Psychotic disorders were present in 41% of adults over age 25. Males did not predominate in psychotic or autism spectrum disorders. Hierarchical regressions in the subgroup revealed that daily living skills were predicted by the presence of anxiety disorders. Psychopathology was not associated with communication or socialization skills. CONCLUSIONS: To the authors' knowledge, this is the largest study of psychiatric morbidity in 22q11.2 deletion syndrome. It validates previous findings that this condition is one of the strongest risk factors for psychosis. Anxiety and developmental disorders were also prevalent. These results highlight the need to monitor and reduce the long-term burden of psychopathology in 22q11.2 deletion syndrome.
Assuntos
Síndrome de DiGeorge/psicologia , Transtornos Mentais/genética , Adolescente , Adulto , Fatores Etários , Idoso , Transtornos de Ansiedade/genética , Transtorno do Deficit de Atenção com Hiperatividade/genética , Criança , Transtornos Globais do Desenvolvimento Infantil/genética , Síndrome de DiGeorge/complicações , Feminino , Humanos , Inteligência/genética , Masculino , Pessoa de Meia-Idade , Transtornos do Humor/genética , Psicopatologia , Transtornos Psicóticos/genética , Fatores Sexuais , Adulto JovemRESUMO
Patients with 22q11DS are at risk of behavioral problems and cognitive impairment. Recent studies suggest a possible intellectual decline in 22q11DS children. To date it is unknown if cognitive development is related to the behavioral problems in 22q11DS. We studied 53 children with 22q11DS who underwent cognitive and behavioral assessments at 9.5 years (T1) and 15.3 years (T2). In about one third, IQ data obtained at 7.5 years (T0) were also available. Results showed that internalizing behaviors intensified while externalizing behaviors decreased. Simultaneously, in about a third a significant decline in IQ was found, which, surprisingly, was unrelated to the behavioral changes. It can be concluded that children with 22q11DS follow a unique developmental trajectory. Cognitive deterioration is severe in some but does not appear to predict behavioral problems in early adolescence.
Assuntos
Síndrome da Deleção 22q11/psicologia , Transtornos do Comportamento Infantil/psicologia , Transtornos Cognitivos/psicologia , Controle Interno-Externo , Síndrome da Deleção 22q11/epidemiologia , Adolescente , Desenvolvimento do Adolescente , Criança , Transtornos do Comportamento Infantil/epidemiologia , Desenvolvimento Infantil , Transtornos Cognitivos/epidemiologia , Feminino , Seguimentos , Humanos , Estudos Longitudinais , Masculino , Estudos Prospectivos , Psicologia do Adolescente , Psicologia da Criança , Fatores de RiscoRESUMO
The purpose of this study was to explore the relationship between intelligence and visual motor integration skills in 5-year-old children with 22q11-deletion syndrome (22q11DS) (N = 65, 43 females, 22 males; mean age 5.6 years (SD 0.2), range 5.23-5.99 years). Sufficient VMI skills seem a prerequisite for IQ testing. Since problems related to these skills are reported in children with 22q11DS, weak VMI skills may contribute to the lower than average IQ scores commonly reported. To investigate if the correlation of VMI and IQ score was mainly influenced by problems with visual perception skills (VP), motor coordination skills (MC) or difficulties with the integration of both skills (VMI), a subgroup (n = 28) was also administered the Beery VMI supplemental developmental tests. Due to the narrow age range of this study, we were also able to provide an insight into the neurocognitive phenotype of 5-year olds with 22q11DS and the influence of gender, heart disease and origin of deletion on this phenotype. Results show a mean full scale IQ (FSIQ) = 73.0 (SD 10.4) and mean VMI = 86.2 (SD 8.4). A significant correlation between FSIQ and VMI was found (r = .45, p = .000), with most variation (26%) explained in the performance IQ score ((PIQ), r = .51, p = .000). VP correlated significantly with FSIQ (r = .44, p = .01) and PIQ (r = .49, p = .004). MC was not significantly correlated with IQ (FSIQ, r = .21, p = .15; PIQ, r = .28, p = .07), suggesting that problems with motor coordination do not influence results on IQ-tests in a significant way at this age. Girls scored significantly higher on FSIQ and PIQ than boys; cardiac anomalies were not predictive of FSIQ or VMI scores. The results of this study suggest a characteristic neurocognitive phenotype for 5-year olds with 22q11DS. Deficiencies in visual perception and/or processing are negatively correlated with IQ scores, whereas deficiencies in motor skills do not have a relevant negative impact at this age. These findings provide further insight into 22q11DS specific neurocognitive deficiencies.