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1.
J Clin Exp Neuropsychol ; 45(6): 570-578, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37732542

RESUMO

INTRODUCTION: 22q11.2 deletion syndrome (22qDS) has been associated with varying levels of social impairments, and with atypical visual scanning of faces. The present study explored whether self-reported sensitivity to eye contact might be related to these phenomena. METHOD: Individuals with confirmed 22qDS were interviewed about their experience and possible discomfort with eye contact. In cases where individuals expresesed discomfort, they were subsequently asked about coping mechanisms used to deal with this discomfort. In addition to self-reported eye contact discomfort, gaze to emotional faces was examined using eye tracking. RESULTS: In the subgroup of individuals who reported discomfort during eye contact, eye tracking results revealed a lower amount of gaze in the eyes of neutral faces, as well as the absence of the typical left visual field (LVF) bias, indicative of alterations in hemispheric lateralization. This subgroup also scored lower on a measure of everyday functioning. CONCLUSIONS: Our results show that, by simply asking individuals with this social and communicative disorder about eye gaze discomfort, we may better understand the specific challenges that they experience. Moreover, information gained from such first-person reports together with eye-tracking measures further informs about the integrity of their face processing system, as well as about the nature and degree of impairment in this population.


Assuntos
Síndrome de DiGeorge , Reconhecimento Facial , Humanos , Síndrome de DiGeorge/complicações , Autorrelato , Fixação Ocular , Cromossomos
2.
Am J Med Genet C Semin Med Genet ; 193(2): 172-182, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37248687

RESUMO

The 22q11.2 deletion syndrome (22q11.2DS), affects physical as well as cognitive and emotional functioning with increased risk for psychiatric and behavioral problems. This longitudinal study of 79 individuals (18-50 years) with 22q11.2DS investigated neurodevelopmental (NDD) and psychiatric disorders in adulthood, evaluated the stability of childhood diagnoses over time, and examined associations between clinical characteristics in childhood/adolescence and diagnostic outcome in adult age. Examination using validated instruments for cognitive, psychiatric, and global functional problems in the context of an in-depth clinical evaluation found adult age stability of NDD diagnoses made in childhood, however, rates increased at follow-up. Rates of anxiety, mood, and psychotic disorders were high, with a majority meeting diagnostic criteria for one or more psychiatric disorder. The rate of psychotic disorders was much lower compared to many other studies. Variability in functioning at follow-up was primarily associated with intellectual ability at T1. The findings obtained highlight the increased risk of NDD and psychiatric problems and of cognitive impairment and reduced levels of global functioning over time. Results emphasize the importance of clinical follow-up to enable appropriate support for the promotion of optimal health along with a need for future research on effective interventions and treatment strategies.


Assuntos
Síndrome de DiGeorge , Transtornos Mentais , Transtornos Psicóticos , Adolescente , Adulto , Humanos , Síndrome de DiGeorge/complicações , Estudos Longitudinais , Estudos Prospectivos , Transtornos Psicóticos/genética , Transtornos Psicóticos/complicações
3.
JAMA ; 325(18): 1863-1873, 2021 05 11.
Artigo em Inglês | MEDLINE | ID: mdl-33974020

RESUMO

Importance: In most countries, young people with obsessive-compulsive disorder have limited access to specialist cognitive behavioral therapy (CBT), a first-line treatment. Objective: To investigate whether internet-delivered CBT implemented in a stepped-care model is noninferior to in-person CBT for pediatric obsessive-compulsive disorder. Design, Setting and Participants: A randomized clinical noninferiority trial conducted at 2 specialist child and adolescent mental health clinics in Sweden. Participants included 152 individuals aged 8 to 17 years with obsessive-compulsive disorder. Enrollment began in October 2017 and ended in May 2019. Follow-up ended in April 2020. Interventions: Participants randomized to the stepped-care group (n = 74) received internet-delivered CBT for 16 weeks. Nonresponders at the 3-month follow-up were then offered a course of traditional face-to-face treatment. Participants randomized to the control group (n = 78) immediately received in-person CBT for 16 weeks. Nonresponders at the 3-month follow-up received additional face-to-face treatment. Main Outcomes and Measures: The primary outcome was the masked assessor-rated Children's Yale-Brown Obsessive-Compulsive Scale (CY-BOCS) score at the 6-month follow-up. The scale includes 10 items rated from 0 (no symptoms) to 4 (extreme symptoms), yielding a total score range of 0 to 40, with higher scores indicating greater severity. Assessors were masked to treatment allocation at pretreatment, posttreatment, 3-month follow-up, and 6-month follow-up assessments. The predefined noninferiority margin was 4 points on the CY-BOCS. Results: Among the 152 randomized participants (mean age, 13.4 years; 94 [62%] females), 151 (99%) completed the trial. At the 3-month follow-up, 34 participants (46%) in the stepped-care group and 23 (30%) in the in-person CBT group were nonresponders. At the 6-month follow-up, the CY-BOCS score was 11.57 points in the stepped-care group vs 10.57 points in the face-to-face treatment group, corresponding to an estimated mean difference of 0.91 points ([1-sided 97.5% CI, -∞ to 3.28]; P for noninferiority = .02). Increased anxiety (30%-36%) and depressive symptoms (20%-28%) were the most frequently reported adverse events in both groups. There were 2 unrelated serious adverse events (1 in each group). Conclusions and Relevance: Among children and adolescents with obsessive-compulsive disorder, treatment with an internet-delivered CBT program followed by in-person CBT if necessary compared with in-person CBT alone resulted in a noninferior difference in symptoms at the 6-month follow-up. Further research is needed to understand the durability and generalizability of these findings. Trial Registration: ClinicalTrials.gov Identifier: NCT03263546.


Assuntos
Terapia Cognitivo-Comportamental/métodos , Intervenção Baseada em Internet , Transtorno Obsessivo-Compulsivo/terapia , Adolescente , Ansiedade/etiologia , Criança , Depressão/etiologia , Feminino , Humanos , Masculino , Método Simples-Cego , Suécia
4.
JAMA Netw Open ; 2(10): e1913810, 2019 10 02.
Artigo em Inglês | MEDLINE | ID: mdl-31642928

RESUMO

Importance: Internet-delivered cognitive behavior therapy is an effective treatment for children and adolescents with obsessive-compulsive disorder and has the potential to markedly increase access to treatment for patients while being cost-effective for health care organizations. Objective: To investigate whether internet-delivered cognitive behavior therapy implemented within a stepped care model is noninferior to, and cost-effective compared with, the gold standard of face-to-face cognitive behavior therapy for pediatric obsessive-compulsive disorder. Design, Setting, and Participants: Multicenter, single-blind, randomized clinical noninferiority trial implemented at 2 specialist pediatric obsessive-compulsive disorder clinics in Stockholm and Gothenburg, Sweden. Participants are 152 children and adolescents aged 7 to 17 years with obsessive compulsive disorder, recruited through the 2 clinics and online self-referral. Patients will be randomized 1:1 to the stepped care intervention or face-to-face therapy. Blind evaluations will be conducted after treatment and at 3-month and 6-month follow-ups. At the 6-month follow-up (primary end point), noninferiority will be tested and resource use will be compared between the 2 treatment groups. Data will be analyzed according to intention-to-treat principles. Intervention: Patients randomized to stepped care will first receive internet-delivered cognitive behavior therapy for 16 weeks; patients who are classified as nonresponders 3 months after treatment completion will receive additional face-to-face therapy. The control group will receive 16 weeks of face-to-face cognitive behavior therapy immediately following randomization and nonresponders at the 3-month follow-up will, as in the stepped care group, receive additional face-to-face therapy. Main Outcomes and Measures: Noninferiority is defined as a 4-point difference on the primary outcome measure (Children's Yale-Brown Obsessive Compulsive Scale). Discussion: Recruitment started October 6, 2017, and was completed May 24, 2019. Results from the primary end point will be available by May 2020. The naturalistic follow-ups (1, 2, and 5 years after the end of treatment) will continue to 2025. There are no interim analyses planned or stopping rules for the trial. Trial Registration: ClinicalTrials.gov identifier: NCT03263546.


Assuntos
Terapia Cognitivo-Comportamental/métodos , Transtorno Obsessivo-Compulsivo/terapia , Adolescente , Criança , Protocolos Clínicos , Feminino , Humanos , Internet , Entrevista Psicológica , Masculino , Pediatria , Suécia
5.
Lancet Child Adolesc Health ; 3(3): 175-180, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30704875

RESUMO

BACKGROUND: Paediatric acute-onset neuropsychiatric syndrome (PANS) is a newly defined symptom-based condition that mainly occurs in children and adolescents. Few studies have described the clinical characteristics of the syndrome. METHODS: We clinically assessed and reviewed the medical histories of children and adolescents (aged 4-14 years) with suspected PANS who were referred to a specialist clinic in Gothenburg, Sweden, by local paediatricians and child psychiatrists. We scored severity of symptoms and impairment retrospectively for the timepoint with the most severe symptoms using the PANS scale. FINDINGS: Of 41 patients (37 referred and four visited upon parents' request), 23 (ten girls and 13 boys) met PANS diagnostic criteria. Mean age at PANS onset was 8·5 years (SD 3·37). 11 (48%) patients had a family history of developmental or neuropsychiatric disorders in a first-degree relative and 11 (48%) had a family history of autoimmune or inflammatory diseases in a first-degree relative. 17 (74%) patients had been previously diagnosed with a developmental disorder (n=5) or had symptoms indicative of developmental problems (n=12). A verified or suspected infection was temporally related to PANS onset in all patients; the infection was bacterial in ten (43%) patients (eight had streptococcal infection and two an infection caused by other bacteria) and viral in 13 (57%) patients. All patients had a relapsing-remitting course of illness. The mean PANS scale symptom score was 46 (SD 3·67) and the mean impairment score was 45 (2·74). Antibiotic treatment was reported as beneficial by the parents of 12 (63%) of the 19 children who received antibiotics. INTERPRETATION: Our PANS cohort had severe, acute-onset, complex neuropsychiatric symptoms, a relapsing-remitting symptom course, and possible infectious triggers. Further research into the cause of, and appropriate treatment for, PANS is warranted. FUNDING: Swedish Brain Foundation.


Assuntos
Doenças Autoimunes/fisiopatologia , Transtorno Obsessivo-Compulsivo/fisiopatologia , Adolescente , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/etiologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Transtorno Obsessivo-Compulsivo/diagnóstico , Transtorno Obsessivo-Compulsivo/etiologia , Recidiva , Estudos Retrospectivos , Índice de Gravidade de Doença , Infecções Estreptocócicas/complicações , Viroses/complicações
6.
Eur Child Adolesc Psychiatry ; 17(1): 20-31, 2008 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-18004647

RESUMO

OBJECTIVE: Obsessive-compulsive disorder (OCD) defined at the diagnostic level encompasses divergent symptoms and is often associated with other psychiatric problems. The present study examines OCD versus co-morbid symptom patterns in OCD in children and adolescents in order to investigate the presence of diagnostic heterogeneity. SUBJECTS AND METHODS: A total of 113 outpatients with primary OCD participated. The patients' and primary caretakers' responses on semi-structured interviews (child version of Schedule for Affective Disorders and Schizophrenia and the Children's Yale-Brown Obsessive Compulsive Scale) and parents' responses on the Child Behaviour Checklist were used in the study. Psychiatric diagnoses were related to CBCL syndrome scores and CBCL scores were compared with the Swedish normative data. RESULTS: Co-morbid diagnoses were very common and only one out of five patients had only OCD. The most common group was the neuropsychiatric disorders (47%) where tic disorders were most common (27%), especially among boys (40.8%; P = .006, Fisher's exact test). Also anxiety disorders were common (39.8%) as were affective disorders (24.8%) neither with any gender differences. Diagnoses of disruptive disorders were less common (8.8%), almost exclusively of the oppositional kind (ODD) (8.8%). From the dimensional point of view using the CBCL, patients with OCD scored higher than Swedish youngster generally do, and some gender differences were seen in that girls scored higher on anxiety and depression while both girls and boys had high scores on thought problems, attention problems and especially aggressive behaviour. Comorbidities explained from 25 to 50% scores of the CBCL sub-syndrome scales, often with both main effects and through complex patterns of interaction with gender, OCD-severity and other co-morbid problems. CONCLUSIONS: While co-morbid problems is an important facet of OCD, sub-syndromal levels of symptoms that can be assessed using a dimensional approach, is a large part of the total symptom burden in these youngsters. Our data indicate contributions of different pathways for girls and for boys for several comorbid problems together with OCD-severity.


Assuntos
Sintomas Afetivos/epidemiologia , Transtornos do Comportamento Infantil/epidemiologia , Transtorno Obsessivo-Compulsivo/epidemiologia , Adolescente , Sintomas Afetivos/diagnóstico , Sintomas Afetivos/psicologia , Agressão/psicologia , Transtornos de Ansiedade/diagnóstico , Transtornos de Ansiedade/epidemiologia , Transtornos de Ansiedade/psicologia , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/diagnóstico , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/epidemiologia , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/psicologia , Criança , Transtornos do Comportamento Infantil/diagnóstico , Transtornos do Comportamento Infantil/psicologia , Pré-Escolar , Comorbidade , Estudos Transversais , Transtorno Depressivo/diagnóstico , Transtorno Depressivo/epidemiologia , Transtorno Depressivo/psicologia , Feminino , Humanos , Masculino , Transtorno Obsessivo-Compulsivo/diagnóstico , Transtorno Obsessivo-Compulsivo/psicologia , Determinação da Personalidade , Inventário de Personalidade , Fatores Sexuais , Suécia , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/epidemiologia , Síndrome de Tourette/psicologia
7.
Man Ther ; 11(2): 130-5, 2006 May.
Artigo em Inglês | MEDLINE | ID: mdl-16011907

RESUMO

The aim of this study was to investigate the effects over 24h, on range of motion and pain, of a single intervention of Mulligan's bent leg raise (BLR) technique in subjects with limited straight leg raise (SLR) and low back pain (LBP). Mulligan techniques are frequently used in practice but their effectiveness has not been adequately researched. Ninety-four subjects were contacted by telephone and 46 volunteered for assessment. Of these, 24 fulfilled inclusion criteria of unilateral SLR limitation and LBP. All subjects were naïve to physiotherapy, blinded, and randomly allocated to either a BLR (n=12) or placebo group (n=12). Range of SLR was measured by an assessor blind to group allocation, prior to, immediately following, and 24h after the intervention. Similarly pain was assessed prior to, and 24h after the intervention. After adjusting for differences in baseline values of SLR range, there was no difference between the two groups immediately after the intervention. However, 24h later, there was a significant increase in the range by 7 degrees in the BLR group, which may be clinically important. In addition there was a one-point reduction in pain, but no difference between groups. This preliminary study provides limited support for the use of the BLR technique; however, further research is required.


Assuntos
Perna (Membro)/fisiopatologia , Dor Lombar/terapia , Manipulação Ortopédica/métodos , Músculo Esquelético/fisiopatologia , Amplitude de Movimento Articular , Adulto , Método Duplo-Cego , Feminino , Articulação do Quadril/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Medição da Dor , Decúbito Dorsal , Resultado do Tratamento
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