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1.
J Am Psychiatr Nurses Assoc ; : 10783903221104147, 2022 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-35708452

RESUMO

BACKGROUND: Parents of children with autism spectrum disorder (ASD) face unique challenges in raising their children, and they are at higher risk for depression compared to parents of children with typical development (TD) and other disabilities. AIMS: (1) To compare prevalence of depressive symptoms among mothers of children with ASD (n = 101), Down syndrome (DS, n = 101), and TD (n = 43) and (2) to describe the relationships among depression, self-efficacy, and family functioning, and describe the mediating role of maternal child care self-efficacy between depressive symptoms and child behavior. METHODS: In this cross-sectional study, mothers completed the Social Communication Questionnaire, Aberrant Behavior Checklist, Patient Health Questionnaire-9 (PHQ-9), Family Assessment Device General Functioning Scale, and Maternal Self-Efficacy Scale. RESULTS: Mothers of children with ASD had significantly higher mean PHQ-9 scores (p < .001), higher proportion of positive depression screening (p < .001), and lower family functioning (p < .001). Better family functioning is associated with less depression, better self-efficacy, and less severe ASD symptoms and behaviors. Self-efficacy mediated the relationship between depression and child ASD symptoms, and problematic behavior. CONCLUSIONS: The rates of reported history of depression and low family functioning in mothers of children with ASD are twice the rate in mothers of children with DS and TD. Maternal child care self-efficacy is protective against maternal depression, even in the presence of severe child problematic behaviors and ASD symptoms. Interventions that increase child care self-efficacy and family functioning may be helpful in addressing depression in mothers of children with ASD.

2.
Curr Psychiatry Rep ; 19(6): 34, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28502070

RESUMO

The purposes of this paper are to provide an overview of the state of the science of sleep in children with autism spectrum disorder (ASD), present hypotheses for the high prevalence of insomnia in children with ASD, and present a practice pathway for promoting optimal sleep. Approximately two thirds of children with ASD have chronic insomnia, and to date, the strongest evidence on promoting sleep is for sleep education, environmental changes, behavioral interventions, and exogenous melatonin. The Sleep Committee of the Autism Treatment Network (ATN) developed a practice pathway, based on expert consensus, to capture best practices for screening, identification, and treatment for sleep problems in ASD in 2012. An exemplar case is presented to integrate key constructs of the practice pathway and address arousal and sensory dysregulation in a child with ASD and anxiety disorder. This paper concludes with next steps for dissemination of the practice pathway and future directions for research of sleep problems in ASD.


Assuntos
Transtorno do Espectro Autista/complicações , Transtornos do Sono-Vigília/complicações , Criança , Humanos
3.
Public Health Nurs ; 32(5): 488-97, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25112438

RESUMO

OBJECTIVE: This pilot study compared children with autism spectrum disorders (ASD) and typically developing children (TDC) on weight-related outcomes and caregiver-reported child eating behaviors and feeding practices. DESIGN AND SAMPLE: Cross-sectional study. Caregivers of 25 children with ASD and 30 TDC, ages 4-6. METHODS: Caregivers completed validated questionnaires that assessed child eating behaviors and feeding practices. Children's height, weight, and waist circumference were measured. RESULTS: Children with ASD, when compared to TDC, showed significantly greater abdominal waist circumferences (p = .01) and waist-to-height ratios (p < .001). Children with ASD with atypical oral sensory sensitivity exhibited greater food avoidance behaviors, including reluctance to eat novel foods (p = .004), being selective about the range of foods they accept (p = .03), and undereating due to negative emotions (p = .02), than children with ASD with typical oral sensory sensitivity. Caregivers of children with ASD with atypical oral sensory sensitivity reported using food to regulate negative child emotions to a greater extent than caregivers of children with typical oral sensory sensitivity (p = .02). DISCUSSION: Children with ASD, especially those with atypical oral sensory sensitivity, are at increased risk for food avoidance behaviors and may require additional support in several feeding domains.


Assuntos
Transtorno do Espectro Autista/psicologia , Cuidadores/psicologia , Comportamento Infantil/psicologia , Comportamento Alimentar/psicologia , Peso Corporal , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Masculino , Projetos Piloto , Inquéritos e Questionários
4.
Am J Med Genet B Neuropsychiatr Genet ; 165B(2): 137-47, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24265253

RESUMO

Children with 22q11.2 deletion syndrome (22q11DS) present with congenital heart disease (CHD) and high prevalence of psychiatric disorders and neurocognitive deficits. Although CHD has been implicated in neurodevelopment, its role in the neuropsychiatric outcome in 22q11DS is poorly understood. We investigated whether CHD contributes to the high prevalence of psychiatric disorders and neurocognitive impairments in 22q11DS. Fifty-four children ages 8-14 years with 22q11DS and 16 age-matched non-deleted children with CHD participated. They were assessed using semi-structured interviews and a Computerized Neurocognitive Battery. CHD status was assessed using available medical records. Prevalence of psychiatric disorders and cognitive profiles were compared among the groups. There were no significant differences between the prevalence of psychiatric disorders in the 22q11DS with and without CHD. In 22q11DS with CHD, the prevalence rates were 41% anxiety disorders, 37% ADHD and 71% psychosis spectrum. In 22q11DS without CHD, the rates were 33% anxiety disorders, 41% ADHD and 64% psychosis spectrum. In comparison, the non-deleted CHD group had lower rates of psychopathology (25% anxiety disorders, 6% ADHD, and 13% psychosis spectrum). Similarly, the 22q11DS groups, regardless of CHD status, had significantly greater neurocognitive deficits across multiple domains, compared to the CHD-only group. We conclude that CHD in this sample of children with 22q11.2DS does not have a major impact on the prevalence of psychiatric disorders and is not associated with increased neurocognitive deficits. These findings suggest that the 22q11.2 deletion status itself may confer significant neuropsychiatric vulnerability in this population.


Assuntos
Transtornos de Ansiedade/genética , Síndrome de DiGeorge/genética , Predisposição Genética para Doença , Transtornos Psicóticos/genética , Adolescente , Criança , Cromossomos Humanos Par 22 , Cognição/fisiologia , Síndrome de DiGeorge/etiologia , Feminino , Testes Genéticos/métodos , Humanos , Masculino
5.
Pediatr Clin North Am ; 71(2): 253-268, 2024 04.
Artigo em Inglês | MEDLINE | ID: mdl-38423719

RESUMO

Sleep problems are common in children with autism spectrum disorder (ASD), with 40% to 80% prevalence. Common disorders include insomnia, parasomnias, and circadian rhythm sleep-wake disorders. These problems have a multifactorial etiology and can both exacerbate and be exacerbated by core ASD symptoms. Sleep problems also impact the health and quality of life of both patients and their caregivers. All children with autism should be regularly screened for sleep problems and evaluated for co-occurring medical contributors. Behavioral interventions with caregiver training remain first-line treatment for sleep disorders in both neurotypical and neurodiverse youth.


Assuntos
Transtorno do Espectro Autista , Transtornos do Sono-Vigília , Criança , Adolescente , Humanos , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/terapia , Qualidade de Vida , Transtornos do Sono-Vigília/epidemiologia , Transtornos do Sono-Vigília/etiologia , Transtornos do Sono-Vigília/terapia , Prevalência , Sono
6.
J Pediatr Health Care ; 38(1): 61-73, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37725028

RESUMO

INTRODUCTION: This cross-sectional study aimed to (1) compare family management between families of children with autism spectrum disorder (ASD) or Down syndrome and (2) evaluate the contribution of the child (ASD behaviors, feeding difficulties, sleep disturbances), caregiver (mental health) and family (social support) factors to the caregiver's perceived condition management ability and effort. METHOD: Eighty-five caregivers (56 ASD, 29 Down syndrome) completed quantitative instruments online. Data analysis included independent samples t-tests and multiple linear regression. RESULTS: There were no significant differences in the dimensions of family management between groups. More ASD behaviors were associated with lower condition management ability and higher condition management effort. Lower perceived social support and higher caregiver age were associated with lower condition management ability. DISCUSSION: Integrating care into family life may be more challenging when the child has more social differences and behavioral rigidity. Nursing care should include an assessment of family social support.


Assuntos
Transtorno do Espectro Autista , Síndrome de Down , Criança , Humanos , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/terapia , Síndrome de Down/epidemiologia , Síndrome de Down/terapia , Estudos Transversais , Cuidadores
7.
J Pediatr Nurs ; 28(6): 548-56, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23531467

RESUMO

Children with autism spectrum disorders (ASD) and their caregivers face unique challenges in the children's daily eating routines and food intake patterns. The aim of this brief review is to describe eating behaviors of children with ASD, including increased food neophobia and food selectivity, and review findings on children's diet quality, and gastrointestinal (GI) symptoms. Advancing knowledge about the interrelationships between these nutrition-related domains in children with ASD is expected to have important implications for clinical nursing practice and caregiver care.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/epidemiologia , Dieta , Comportamento Alimentar , Gastroenteropatias/epidemiologia , Cuidadores , Transtornos Globais do Desenvolvimento Infantil/psicologia , Comorbidade , Comportamento Alimentar/psicologia , Humanos , Intestinos/microbiologia , Micronutrientes , Estado Nutricional , Secretina/uso terapêutico
8.
Neurosci Biobehav Rev ; 134: 104495, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34919986

RESUMO

BACKGROUND: Recent studies have examined the role that the serotonergic system plays in moderating the association between adverse childhood experiences (ACEs) and depressive and anxiety disorders in adulthood. The aim of this literature review is to synthesize studies that examined serotonin's impact in relation to ACEs, and depressive and anxiety disorders in this population. METHODS: Published studies from 2008 to 2018 were retrieved from PubMed, CINAHL, and PsychINFO databases, and were included if ACEs, the serotonergic system, and depressive and or anxiety disorders were assessed in those with a mean age between nineteen and forty. RESULTS: Twenty-eight studies were included. Various genetic polymorphisms in the serotonergic signaling system moderated the association between ACEs and depression. Additionally, selective serotonin reuptake inhibitors with a high affinity for the serotonin transporter, resulted in poor treatment outcomes for those with history of ACEs. CONCLUSION: Additional research is needed in order to further define the role that the serotonergic genes play in the association between ACEs and depressive and anxiety disorders in adulthood.


Assuntos
Experiências Adversas da Infância , Adulto , Ansiedade , Transtornos de Ansiedade , Depressão/epidemiologia , Humanos
9.
J Autism Dev Disord ; 52(1): 255-274, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33666799

RESUMO

Feeding difficulties related to selective intake, or eating a limited variety of foods, are very common in children with autism spectrum disorder (ASD). A systematic search of PubMed, Embase, PsycInfo, and CINAHL identified 29 studies that evaluated eight correlates: age, ASD symptoms and severity, cognitive and adaptive skills, sensory processing and perception, challenging behavior, weight status, gastrointestinal symptoms, and parenting stress. Feeding difficulties related to selective intake are consistently correlated with impaired sensory processing and perception and tend to be positively associated with rigidity and challenging behavior. These feeding difficulties tend to persist with advancing age. Other correlates demonstrated inconsistent findings. A significant limitation of research reviewed is variability in terminology, definitions, and measurement of feeding difficulties.


Assuntos
Transtorno do Espectro Autista , Gastroenteropatias , Criança , Comportamento Alimentar , Humanos , Poder Familiar , Sensação
10.
J Am Assoc Nurse Pract ; 33(10): 776-784, 2020 Nov 26.
Artigo em Inglês | MEDLINE | ID: mdl-33273264

RESUMO

BACKGROUND: Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental condition. Autism spectrum disorder individuals are interested in sexual activity and pursuing romantic relationships, yet they often lack psychosexual knowledge and engage in risky sexual behaviors. The special learning needs of ASD individuals influence their exclusion from educational and social settings, resulting in fewer opportunities to acquire sex knowledge from reliable sources. OBJECTIVES: This review aimed to explore factors influencing sexual knowledge and evaluate outcomes of comprehensive, ASD-tailored psychosexual education. DATA SOURCES: PubMed, PsychINFO, and EBSCOhost databases were used to locate peer-reviewed articles in English in the 5 years between 2013 and 2018. Keywords included "autism spectrum disorder," "child abuse," "sexual," "sexual offenses," "sexual abuse," and "sexual education." CONCLUSIONS: Nine articles were included in the review. Compared with neurotypical adults, ASD adults had less sex-related knowledge, more victimization experiences, and obtained sexual information from more nonsocial sources. Knowledge is a partial mediator between ASD diagnosis and sexual victimization. Parents expressed having little support to educate their offspring and provided less sex education to children with intellectual disability and severe symptoms. Psychosexual education programs that are tailored to suit developmental and cognitive differences of ASD individuals increase knowledge and improve parent-child communication, especially for younger adolescents. IMPLICATIONS FOR PRACTICE: Nurse practitioners who care for ASD individuals should assess knowledge and victimization experiences, assess parent perceptions and concerns, and provide guidance for developmentally and intellectually appropriate sex education. These should be incorporated into practice starting at a young age and continue across the lifespan.

11.
Autism Res ; 13(7): 1227-1238, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32567802

RESUMO

Previous studies investigating the association between dysmorphology and cognitive, behavioral, and developmental outcomes among individuals with autism spectrum disorder (ASD) have been limited by the binary classification of dysmorphology and lack of comparison groups. We assessed the association using a continuous measure of dysmorphology severity (DS) in preschool children aged 2-5 years (322 with ASD and intellectual disability [ID], 188 with ASD without ID, and 371 without ASD from the general population [POP]). In bivariate analyses, an inverse association between DS and expressive language, receptive language, fine motor, and visual reception skills was observed in children with ASD and ID. An inverse association of DS with fine motor and visual reception skills, but not expressive language and receptive language, was found in children with ASD without ID. No associations were observed in POP children. These results persisted after exclusion of children with known genetic syndromes or major morphologic anomalies. Quantile regression models showed that the inverse relationships remained significant after adjustment for sex, race/ethnicity, maternal education, family income, study site, and preterm birth. DS was not associated with autistic traits or autism symptom severity, behaviors, or regression among children with ASD with or without ID. Thus, DS was associated with a global impairment of cognitive functioning in children with ASD and ID, but only with fine motor and visual reception deficits in children with ASD without ID. A better understanding is needed for mechanisms that explain the association between DS and cognitive impairment in children with different disorders. Autism Res 2020, 13: 1227-1238. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: We examined whether having more dysmorphic features (DFs) was related to developmental problems among children with autism spectrum disorder (ASD) with or without intellectual disability (ID), and children without ASD from the general population (POP). Children with ASD and ID had more language, movement, and learning issues as the number of DFs increased. Children with ASD without ID had more movement and learning issues as the number of DFs increased. These relationships were not observed in the POP group. Implications are discussed.


Assuntos
Transtorno do Espectro Autista , Deficiência Intelectual , Nascimento Prematuro , Transtorno do Espectro Autista/complicações , Pré-Escolar , Cognição , Feminino , Humanos , Masculino
12.
Sleep ; 32(12): 1566-78, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20041592

RESUMO

STUDY OBJECTIVES: (1) Compare sleep behaviors of children with autism spectrum disorders (ASD) with sleep behaviors of typically developing (TD) children using the Children's Sleep Habits Questionnaire (CSHQ); (2) compare sleep quality--defined as mean activity, sleep latency, number of awakenings, sleep efficiency and total sleep time--of the cohort of children with ASD and TD, as measured by 10 nights of actigraphy; and (3) estimate the prevalence of sleep disturbances in the ASD and TD cohorts. DESIGN: Descriptive cross-sectional study. SETTING: The Children's Hospital of Philadelphia. PARTICIPANTS: Randomly selected children from the Regional Autism Center. The ASD cohort of 59 children, aged 4 to 10 years, (26 with autism, 21 with pervasive developmental disorder-not otherwise specified [PDD-NOS], and 12 with Asperger disorder) were compared with 40 TD control subjects. MEASUREMENTS AND RESULTS: The CSHQ, sleep diaries, and 10 nights of actigraphy using the Sadeh algorithm of children with ASD and TD control subjects were compared. CSHQ showed 66.1% of parents of children with ASD (62.5% autism, 76.2% PDD-NOS, 58.3% Asperger disorder) and 45% of parents of the control subjects reported that their children had sleep problems. Actigraphic data showed that 66.7% of children with ASD (75% autism, 52.4% PDD-NOS, 75% Asperger disorder) and 45.9% of the control subjects had disturbed sleep. CONCLUSIONS: The prevalence estimate of 45% for mild sleep disturbances in the TD cohort highlights pediatric sleep debt as a public health problem of concern. The prevalence estimate of 66% for moderate sleep disturbances in the ASD cohort underscores the significant sleep problems that the families of these children face. The predominant sleep disorders in the ASD cohort were behavioral insomnia sleep-onset type and insomnia due to PDD.


Assuntos
Comportamento Infantil , Transtornos Globais do Desenvolvimento Infantil/epidemiologia , Transtornos do Sono-Vigília/epidemiologia , Actigrafia/métodos , Actigrafia/estatística & dados numéricos , Criança , Pré-Escolar , Estudos de Coortes , Comorbidade , Estudos Transversais , Feminino , Humanos , Masculino , Philadelphia/epidemiologia , Prevalência , Sono , Inquéritos e Questionários
13.
J Autism Dev Disord ; 49(5): 2184-2202, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30783897

RESUMO

The presence of multiple dysmorphic features in some children with autism spectrum disorder (ASD) might identify distinct ASD phenotypes and serve as potential markers for understanding causes and prognoses. To evaluate dysmorphology in ASD, children aged 3-6 years with ASD and non-ASD population controls (POP) from the Study to Explore Early Development were evaluated using a novel, systematic dysmorphology review approach. Separate analyses were conducted for non-Hispanic White, non-Hispanic Black, and Hispanic children. In each racial/ethnic group, ~ 17% of ASD cases were Dysmorphic compared with ~ 5% of POP controls. The ASD-POP differential was not explained by known genetic disorders or birth defects. In future epidemiologic studies, subgrouping ASD cases as Dysmorphic vs. Non-dysmorphic might help delineate risk factors for ASD.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Anormalidades Craniofaciais/complicações , Fácies , Fenótipo , Transtorno do Espectro Autista/classificação , Transtorno do Espectro Autista/complicações , Criança , Desenvolvimento Infantil , Pré-Escolar , Etnicidade , Feminino , Humanos , Masculino
14.
Nurse Pract ; 43(2): 21-28, 2018 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-29309380

RESUMO

Nurse practitioners working in the primary care setting will commonly see children with autism spectrum disorder. It is important for clinicians to be vigilant for subtle developmental signs that can lead to early identification and diagnosis. This article presents information on assessment, screening, the responsibilities of coordinating services, and ways to support families.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/enfermagem , Atenção Primária à Saúde , Pré-Escolar , Diagnóstico Precoce , Humanos , Masculino , Programas de Rastreamento/enfermagem , Profissionais de Enfermagem , Avaliação em Enfermagem
15.
Biol Psychiatry ; 61(4): 492-7, 2007 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-17207470

RESUMO

BACKGROUND: Gastrointestinal (GI) symptoms and abnormalities in stool consistency are frequently reported by parents of children with autism spectrum disorders (ASD). The purpose of this study was to 1) describe dietary intake of a cohort of children with ASD compared with normative data and 2) determine whether GI symptoms and stool consistency are related to dietary intake. METHODS: Data from diet diaries of children (3-8 years) with ASD (n = 62) were analyzed by a registered pediatric dietician to compare to RDA standards for total calories, protein, carbohydrate, and fat. Dietary intake was correlated with descriptors of stool consistency using cumulative logistic regression methods. RESULTS: Intake of calories, carbohydrates, and fat were in the average range; protein intake was increased (211% of RDA). Reported frequency of GI abnormalities, including abnormal stool consistency (e.g., bulky or loose), was increased (54%). No statistically significant relationships between stool consistency and dietary intake were observed. CONCLUSIONS: In this sample, there was a high rate of reported gastrointestinal symptoms, despite lack of medical causes. Intake was adequate for calories and carbohydrates and increased for protein. The children did not exhibit excessive carbohydrate intake. There was no association of nutrient intake to changes in stool consistency.


Assuntos
Ingestão de Alimentos/efeitos dos fármacos , Ingestão de Energia/efeitos dos fármacos , Fármacos Gastrointestinais/uso terapêutico , Gastroenteropatias/tratamento farmacológico , Gastroenteropatias/fisiopatologia , Secretina/uso terapêutico , Transtorno Autístico/complicações , Criança , Pré-Escolar , Estudos de Coortes , Estudos Cross-Over , Método Duplo-Cego , Ingestão de Energia/fisiologia , Feminino , Gastroenteropatias/etiologia , Humanos , Masculino
16.
Biol Psychiatry ; 82(1): 17-25, 2017 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-27832840

RESUMO

BACKGROUND: Chromosome 22q11.2 deletion syndrome (22q11DS) is a promising model for studying psychosis risk. Direct comparisons of psychosis features between 22q11DS and nondeleted (ND) individuals are limited by inconsistency and small samples. In the largest study to date, we compare 22q11DS to ND in comorbidities, functioning, cognition, and psychosis features across the full range of overall severity. METHODS: ND youths (n = 150) ages 9 to 24 years were matched to 22q11DS individuals (n = 150) on age and sex, stratifying for presence of psychosis spectrum disorder. Individuals were evaluated for psychosis using the Structured Interview for Prodromal Syndromes, and for attention-deficit/hyperactivity, substance-related, and mood disorders. Differential item functioning analysis addressed whether 22q11DS differs from ND in the probability of clinically significant ratings while holding constant the overall level of psychosis. RESULTS: Onset of psychosis proneness was similar among 22q11DS (mean: 11.0 years) and ND (mean: 12.1 years) individuals. Accounting for higher overall psychosis symptoms, 22q11DS participants were still more likely to manifest impaired stress tolerance, avolition, and ideational richness; ND individuals were more likely to exhibit unusual thoughts, persecutory ideas, and bizarre thinking. Cognition was impaired in 22q11DS, but it did not correlate with symptoms except ideational richness. Comorbid anxiety disorders were more likely in psychosis spectrum 22q11DS; substance-related disorders were more likely in ND. Global assessment of function was similar in 22q11DS and ND individuals, except among those with low total Structured Interview for Prodromal Syndromes scores. CONCLUSIONS: Individuals with 22q11DS share overarching similarities with ND individuals in psychosis symptoms and age of onset for psychosis proneness; this continues to support the 22q11DS model as a valuable window into mechanisms contributing to psychosis.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Síndrome de DiGeorge/epidemiologia , Síndrome de DiGeorge/psicologia , Transtornos do Humor/epidemiologia , Transtornos Psicóticos/epidemiologia , Transtornos Psicóticos/psicologia , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Adolescente , Estudos de Casos e Controles , Criança , Cognição , Comorbidade , Feminino , Humanos , Masculino , Pennsylvania/epidemiologia , Fatores de Tempo , Adulto Jovem
17.
Neuroimage Clin ; 12: 420-8, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27622139

RESUMO

The 22q11.2 deletion syndrome (22q11DS) is an uncommon genetic disorder with an increased risk of psychosis. Although the neural substrates of psychosis and schizophrenia are not well understood, aberrations in cortical networks represent intriguing potential mechanisms. Investigations of anatomic networks within 22q11DS are sparse. We investigated group differences in anatomic network structure in 48 individuals with 22q11DS and 370 typically developing controls by analyzing covariance patterns in cortical thickness among 68 regions of interest using graph theoretical models. Subjects with 22q11DS had less robust geographic organization relative to the control group, particularly in the occipital and parietal lobes. Multiple global graph theoretical statistics were decreased in 22q11DS. These results are consistent with prior studies demonstrating decreased connectivity in 22q11DS using other neuroimaging methodologies.


Assuntos
Síndrome de DiGeorge/patologia , Síndrome de DiGeorge/fisiopatologia , Adulto , Mapeamento Encefálico/métodos , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Masculino , Vias Neurais/patologia , Vias Neurais/fisiopatologia , Adulto Jovem
18.
Autism ; 19(8): 969-79, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25633222

RESUMO

This study investigated the accuracy of brief anxiety scales for non-treatment-seeking youth with autism spectrum disorder. In all, 54 youth (7-17 years; IQ: 67-158) with autism spectrum disorder and their parents completed (a) an expanded version of the Anxiety Disorders Interview Schedule-Child/Parent designed to capture typical and atypical fears and (b) brief scales of anxiety symptoms (Behavior Assessment Schedule for Children, Second Edition; Screen for Child Anxiety and Related Emotional Disorders; Negative Affective Self-Statement Questionnaire; Pediatric Anxiety Rating Scale). The results indicate that measures lacked adequate sensitivity and specificity, and the detection of atypical fears was particularly poor. Revised cut scores are offered, but refined and/or revised instruments are likely needed for research on youth with autism spectrum disorder.


Assuntos
Ansiedade/diagnóstico , Transtorno do Espectro Autista/psicologia , Adolescente , Ansiedade/complicações , Ansiedade/psicologia , Transtorno do Espectro Autista/complicações , Criança , Medo/psicologia , Feminino , Humanos , Masculino , Pais/psicologia , Escalas de Graduação Psiquiátrica , Sensibilidade e Especificidade , Inquéritos e Questionários
19.
J Clin Psychiatry ; 76(10): e1262-70, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26528648

RESUMO

OBJECTIVE: Presence of psychiatric comorbidity is associated with poor functioning and is an important consideration in treatment. Many individuals with 22q11.2 deletion syndrome (22q11DS) develop comorbid psychiatric disorders, yet its pattern and impact on functioning have not been formally investigated. In this cross-sectional study, we examined the relationship between comorbid psychopathology and neurocognitive deficits and their association with global functioning. We hypothesized that higher psychiatric burden and psychosis-spectrum features would be associated with reduced functioning and increased neurocognitive deficits. METHOD: The cohort included 171 individuals with 22q11DS and mean (SD) age of 17.4 (8.1) years, recruited from a tertiary children's hospital and nationally through social media between September 2010 and December 2013. Psychiatric diagnoses and functioning were assessed using semistructured interviews and the Global Assessment of Functioning (GAF) scale, respectively. On the basis of psychopathology and number of comorbid diagnoses, participants were assigned to unaffected (n = 32), nonpsychosis spectrum (n = 24), nonpsychosis spectrum-plus (n = 15), psychosis spectrum (n = 29), and psychosis spectrum-plus (n = 71) groups. Executive function, episodic memory, complex cognition, social cognition, and praxis speed were assessed using a computerized neurocognitive battery (CNB). Cognitive profile and GAF scores were compared among the groups, and the association of GAF with cognitive performance and psychopathology was examined. RESULTS: We observed high rates of comorbid psychiatric disorders. Approximately 50% of the participants had ≥ 2 diagnoses. Psychosis spectrum disorders were most frequently comorbid with other disorders. GAF score was progressively worse with increased psychiatric burden. Mean (SD) GAF score for the unaffected group (81.1 [8.9]) was significantly different from those of nonpsychosis spectrum (68.6 [12.1]), nonpsychosis spectrum-plus (63.4 [8.8]), psychosis spectrum (58.7 [13.1]), or psychosis spectrum-plus (55.5 [13.3]) (P < .05) groups. All groups performed poorly and were comparable to each other on the CNB (P = .273). Notably, verbal memory (P = .003), spatial processing (P = .001), and parent education level (P < .001) were significantly associated with GAF. CONCLUSIONS: Individuals with 22q11DS have high rates of comorbid psychiatric disorders and diffuse cognitive deficits regardless of psychiatric burden. Those with psychotic spectrum disorders and comorbid psychiatric disorders are at an increased risk for poor overall functioning.


Assuntos
Transtornos Cognitivos/epidemiologia , Síndrome de DiGeorge/epidemiologia , Transtornos Mentais/epidemiologia , Adolescente , Adulto , Criança , Transtornos Cognitivos/genética , Comorbidade , Estudos Transversais , Síndrome de DiGeorge/psicologia , Feminino , Humanos , Entrevista Psicológica , Masculino , Transtornos Mentais/genética , Pessoa de Meia-Idade , Testes Neuropsicológicos , Escalas de Graduação Psiquiátrica , Psicopatologia , Transtornos Psicóticos/epidemiologia , Transtornos Psicóticos/genética , Adulto Jovem
20.
Biol Psychiatry ; 78(2): 135-43, 2015 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-25555483

RESUMO

BACKGROUND: There is increased risk of developing psychosis in 22q11.2 deletion syndrome (22q11DS). Although this condition is associated with morphologic brain abnormalities, simultaneous examination of multiple high-resolution measures of cortical structure has not been performed. METHODS: Fifty-three patients with 22q11DS, 30 with psychotic symptoms, were compared with demographically matched nondeleted youths: 53 typically developing and 53 with psychotic symptoms. High-resolution magnetic resonance imaging measures of cerebral volume, cortical thickness, surface area, and an index of local gyrification were obtained and compared between groups. RESULTS: Patients with 22q11DS demonstrated global increases in cortical thickness associated with reductions in surface area, reduced index of local gyrification, and lower cerebral volumes relative to typically developing controls. Findings were principally in the frontal lobe, superior parietal lobes, and in the paramedian cerebral cortex. Focally decreased thickness was seen in the superior temporal gyrus and posterior cingulate cortex in 22q11DS relative to nondeleted groups. Patterns between nondeleted participants with psychotic symptoms and 22q11DS were similar but with important differences in several regions implicated in schizophrenia. Post hoc analysis suggested that like the 22q11DS group, cortical thickness in nondeleted individuals with psychotic symptoms differed from typically developing controls in the superior frontal gyrus and superior temporal gyrus, regions previously linked to schizophrenia. CONCLUSIONS: Simultaneous examination of multiple measures of cerebral architecture demonstrates that differences in 22q11DS localize to regions of the frontal, superior parietal, superior temporal, and paramidline cerebral cortex. The overlapping patterns between nondeleted participants with psychotic symptoms and 22q11DS suggest partially shared neuroanatomic substrates.


Assuntos
Síndrome da Deleção 22q11/patologia , Córtex Cerebral/patologia , Síndrome da Deleção 22q11/complicações , Adolescente , Adulto , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Transtornos Mentais/complicações , Transtornos Mentais/patologia , Adulto Jovem
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