RESUMO
Tourette syndrome (TS) is a neuropsychiatric disorder with involvement of genetic and environmental factors. We investigated genetic loci previously implicated in Tourette syndrome and associated disorders in interaction with pre- and perinatal adversity in relation to tic severity using a case-only (N = 518) design. We assessed 98 single-nucleotide polymorphisms (SNPs) selected from (I) top SNPs from genome-wide association studies (GWASs) of TS; (II) top SNPs from GWASs of obsessive-compulsive disorder (OCD), attention-deficit/hyperactivity disorder (ADHD), and autism spectrum disorder (ASD); (III) SNPs previously implicated in candidate-gene studies of TS; (IV) SNPs previously implicated in OCD or ASD; and (V) tagging SNPs in neurotransmitter-related candidate genes. Linear regression models were used to examine the main effects of the SNPs on tic severity, and the interaction effect of these SNPs with a cumulative pre- and perinatal adversity score. Replication was sought for SNPs that met the threshold of significance (after correcting for multiple testing) in a replication sample (N = 678). One SNP (rs7123010), previously implicated in a TS meta-analysis, was significantly related to higher tic severity. We found a gene-environment interaction for rs6539267, another top TS GWAS SNP. These findings were not independently replicated. Our study highlights the future potential of TS GWAS top hits in gene-environment studies.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Tiques , Síndrome de Tourette , Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Espectro Autista/genética , Feminino , Interação Gene-Ambiente , Estudo de Associação Genômica Ampla , Humanos , Gravidez , Índice de Gravidade de DoençaRESUMO
Attention-deficit/hyperactivity disorder (ADHD) is the most common childhood neurodevelopmental disorder and is associated with an array of coexisting conditions that complicate diagnostic assessment and treatment. ADHD and its coexisting conditions may impact function across multiple settings (home, school, peers, community), placing the affected child or adolescent at risk for adverse health and psychosocial outcomes in adulthood. Current practice guidelines focus on the treatment of ADHD in the primary care setting. The Society for Developmental and Behavioral Pediatrics has developed this practice guideline to facilitate integrated, interprofessional assessment and treatment of children and adolescents with "complex ADHD" defined by age (<4 years or presentation at age >12 years), presence of coexisting conditions, moderate to severe functional impairment, diagnostic uncertainty, or inadequate response to treatment.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Pediatria , Adolescente , Adulto , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Criança , Pré-Escolar , Humanos , Atenção Primária à Saúde , Instituições AcadêmicasAssuntos
Transtorno do Deficit de Atenção com Hiperatividade , Estimulantes do Sistema Nervoso Central , Pediatria , Adolescente , Algoritmos , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Estimulantes do Sistema Nervoso Central/uso terapêutico , Criança , Fidelidade a Diretrizes , HumanosRESUMO
PURPOSE OF REVIEW: Pediatricians and other primary care providers are often the first and sole healthcare clinicians of patients who present with tics. However, limited primary care pediatric training in neuropsychiatric concerns, as well as perceived lack of comfort and preparation, make it challenging for these clinicians to confidently identify and manage tic disorders. RECENT FINDINGS: Current empirical findings of tic disorder management relevant to pediatric physicians, including assessment, psychoeducation, behavioral interventions, psychotropic medications, and alternative treatments are reviewed. SUMMARY: This article discusses neuropsychiatric and medical complexities of tic disorder assessment, with particular emphasis on differential and comorbid diagnoses. Tiered referral recommendations, based on symptom severity, impairment, and consideration of comorbid conditions, are provided. Future directions for tic management, including dissemination of evidence-based treatments of tic disorders and multidisciplinary teams within pediatric primary care settings, are included.
RESUMO
Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene and genome-wide association studies (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) and both parents from 412 families (some probands were siblings). We assessed 75 single nucleotide polymorphisms (SNPs) in 465 parent-child trios; 117 additional SNPs in 211 trios; and 4 additional SNPs in 254 trios. We performed SNP and gene-based transmission disequilibrium tests and compared nominally significant SNP results with those from a large independent case-control cohort. After quality control 71 SNPs were available in 371 trios; 112 SNPs in 179 trios; and 3 SNPs in 192 trios. 17 were candidate SNPs implicated in TS and 2 were implicated in obsessive-compulsive disorder (OCD) or autism spectrum disorder (ASD); 142 were tagging SNPs from eight monoamine neurotransmitter-related genes (including dopamine and serotonin); 10 were top SNPs from TS GWAS; and 13 top SNPs from attention-deficit/hyperactivity disorder, OCD, or ASD GWAS. None of the SNPs or genes reached significance after adjustment for multiple testing. We observed nominal significance for the candidate SNPs rs3744161 (TBCD) and rs4565946 (TPH2) and for five tagging SNPs; none of these showed significance in the independent cohort. Also, SLC1A1 in our gene-based analysis and two TS GWAS SNPs showed nominal significance, rs11603305 (intergenic) and rs621942 (PICALM). We found no convincing support for previously implicated genetic polymorphisms. Targeted re-sequencing should fully appreciate the relevance of candidate genes.
Assuntos
Saúde da Família , Polimorfismo de Nucleotídeo Único/genética , Transtornos de Tique/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Desequilíbrio de Ligação , Masculino , Proteínas Associadas aos Microtúbulos/genética , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Triptofano Hidroxilase/genética , Adulto JovemRESUMO
Pre- and perinatal complications have been implicated in the onset and clinical expression of Tourette syndrome albeit with considerable inconsistencies across studies. Also, little is known about their role in co-occurring obsessive-compulsive disorder (OCD) and attention-deficit/hyperactivity disorder (ADHD) in individuals with a tic disorder. Therefore, we aimed to investigate the role of pre- and perinatal complications in relation to the presence and symptom severity of chronic tic disorder and co-occurring OCD and ADHD using data of 1113 participants from the Tourette International Collaborative Genetics study. This study included 586 participants with a chronic tic disorder and 527 unaffected family controls. We controlled for age and sex differences by creating propensity score matched subsamples for both case-control and within-case analyses. We found that premature birth (OR = 1.72) and morning sickness requiring medical attention (OR = 2.57) were associated with the presence of a chronic tic disorder. Also, the total number of pre- and perinatal complications was higher in those with a tic disorder (OR = 1.07). Furthermore, neonatal complications were related to the presence (OR = 1.46) and severity (b = 2.27) of co-occurring OCD and also to ADHD severity (b = 1.09). Delivery complications were only related to co-occurring OCD (OR = 1.49). We conclude that early exposure to adverse situations during pregnancy is related to the presence of chronic tic disorders. Exposure at a later stage, at birth or during the first weeks of life, appears to be associated with co-occurring OCD and ADHD.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno Obsessivo-Compulsivo/epidemiologia , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/fisiopatologia , Síndrome de Tourette/etiologia , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Estudos de Casos e Controles , Criança , Pré-Escolar , Europa (Continente) , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtorno Obsessivo-Compulsivo/diagnóstico , Relações Pais-Filho , Gravidez , Escalas de Graduação Psiquiátrica , República da Coreia , Estudos Retrospectivos , Índice de Gravidade de Doença , Fatores Sexuais , Transtornos de Tique , Estados Unidos , Adulto JovemRESUMO
Comprehensive Behavioral Intervention for Tics (CBIT) is an efficacious treatment with limited regional availability. As neurology and pediatric clinics are often the first point of therapeutic contact for individuals with tics, the present study assessed preliminary treatment response, acceptability, and feasibility of an abbreviated version, modified for child neurology and developmental pediatrics clinics. Fourteen youth (9-17) with Tourette disorder across 2 child neurology clinics and one developmental pediatrics clinic participated in a small case series. Clinician-rated tic severity (Yale Global Tic Severity Scale) decreased from pre- to posttreatment, z = -2.0, P < .05, r = -.48, as did tic-related impairment, z = -2.4, P < .05, r = -.57. Five of the 9 completers (56%) were classified as treatment responders. Satisfaction ratings were high, and therapeutic alliance ratings were moderately high. Results provide guidance for refinement of this modified CBIT protocol.
Assuntos
Terapia Comportamental/métodos , Síndrome de Tourette/terapia , Adolescente , Criança , Estudos de Viabilidade , Feminino , Seguimentos , Humanos , Masculino , Satisfação do Paciente , Projetos Piloto , Índice de Gravidade de Doença , Síndrome de Tourette/psicologia , Resultado do TratamentoRESUMO
INTRODUCTION: Medicaid-enrolled children with autism spectrum disorder (ASD) encounter significant barriers to dental care. Iowa's I-Smile Program was implemented in 2006 to improve dental use for all children in Medicaid. This study compared dental home and preventive dental utilization rates for Medicaid-enrolled children by ASD status and within three time periods (pre-implementation, initial implementation, maturation) and determined I-Smile's longitudinal influence on ASD-related dental use disparities. METHODS: Data from 2002-2011 were analyzed for newly Medicaid-enrolled children aged 3-17 years (N=30,059); identified each child's ASD status; and assessed whether the child had a dental home or utilized preventive dental care. Log-linear regression models were used to generate rate ratios. Analyses were conducted in 2015. RESULTS: In 2003-2011, 9.8% of children with ASD had dental homes compared with 8% of children without ASD; 36.3% of children with ASD utilized preventive care compared to 45.7% of children without ASD. There were no significant differences in dental home rates by ASD status during pre-implementation, initial implementation, or maturation. There were no significant differences in preventive dental utilization by ASD status during pre-implementation or initial implementation, but children with ASD were significantly less likely to utilize preventive care during maturation (rate ratio=0.79, p<0.001). Longitudinal trends in dental home and preventive dental utilization rates were not significant (p=0.54 and p=0.71, respectively). CONCLUSIONS: Among newly Medicaid-enrolled children in Iowa's I-Smile Program, those with ASDs were not less likely than those without ASD to have dental homes but were significantly less likely to utilize preventive dental care.
Assuntos
Transtorno Autístico/complicações , Assistência Odontológica para Crianças/estatística & dados numéricos , Assistência Odontológica/estatística & dados numéricos , Profilaxia Dentária/estatística & dados numéricos , Adolescente , Criança , Pré-Escolar , Assistência Odontológica Integral/estatística & dados numéricos , Feminino , Humanos , Iowa , Modelos Lineares , Estudos Longitudinais , Masculino , Medicaid , Estados UnidosRESUMO
OBJECTIVE: To provide recent estimates of the prevalence of Tourette syndrome among a nationally representative sample of US children and to describe the association of Tourette syndrome with indicators of health and functioning. METHODS: Data on 65,540 US children aged 6 to 17 years from the 2011-2012 National Survey of Children's Health were analyzed. Parents reported whether a health care provider had ever told them their child had Tourette syndrome or other neurobehavioral or chronic health conditions and whether their child had current Tourette syndrome. RESULTS: Based on parents' report, 0.19% of US children had Tourette syndrome; the average age of diagnosis was 8.1 years. Children with Tourette syndrome, compared with those without, were more likely to have co-occurring neurobehavioral and other health conditions, meet criteria for designation as having a special health care need, receive mental health treatment, have unmet mental health care needs, and have parents with high parenting aggravation and parents who were contacted about school problems; they were less likely to receive effective care coordination or have a medical home. After controlling for co-occurring neurobehavioral conditions, the findings on parents being contacted about school problems and children having unmet mental health care needs were no longer significant. CONCLUSIONS: Tourette syndrome is characterized by co-occurring neurobehavioral and other health conditions, and poorer health, education, and family relationships. The findings support previous recommendations to consider co-occurring conditions in the diagnosis and treatment of Tourette syndrome. Future research may explore whether having a medical home improves outcomes among children with Tourette syndrome.
Assuntos
Síndrome de Tourette/epidemiologia , Adolescente , Criança , Estudos Transversais , Feminino , Nível de Saúde , Humanos , Lansoprazol , Masculino , Síndrome de Tourette/complicações , Estados Unidos/epidemiologiaRESUMO
Chronic tic disorders (CTD) are characterized by motor and/or vocal tics. Existing data on the impact of tics in adulthood is limited by small, treatment-seeking samples or by data aggregated across adults and children. The current study explored the functional impact of tics in adults using a nationwide sample of 672 participants with a self-reported CTD. The impact of tics on physical, social, occupational/academic, and psychological functioning was assessed. Results suggested mild to moderate functional impairment and positive correlations between impairment and tic severity. Notable portions of the sample reported social or public avoidance and experiences of discrimination resulting from tics. Compared to previously reported population norms, participants had more psychological difficulties, greater disability, and lower quality of life. The current study suggests that CTDs can adversely impact functioning in adults and highlights the need for clinical interventions and systemic efforts to address tic-related impairments.
Assuntos
Qualidade de Vida , Perfil de Impacto da Doença , Tiques/psicologia , Síndrome de Tourette/psicologia , Atividades Cotidianas , Adolescente , Adulto , Idoso , Doença Crônica , Feminino , Inquéritos Epidemiológicos , Humanos , Internet , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Fatores Socioeconômicos , Inquéritos e Questionários , Adulto JovemRESUMO
OBJECTIVE: Hypohidrotic ectodermal dysplasia (HED) is an X-linked hereditary disorder characterized by hypohidrosis, hypotrichosis, and anomalous dentition. Estimates of up to 50% of affected children having intellectual disability are controversial. METHOD: In a cross-sectional study, 45 youth with HED (77% males, mean age 9.75 years) and 59 matched unaffected controls (70% males, mean age 9.79 years) were administered the Kaufman Brief Intelligence Test and the Kaufman Test of Educational Achievement, and their parents completed standardized neurodevelopmental and behavioral measures, educational, and health-related information regarding their child, as well as standardized and nonstandardized data regarding socioeconomic information for their family. RESULTS: There were no statistically significant differences between the two groups in intelligence quotient composite and educational achievement scores, suggesting absence of learning disability in either group. No gender differences within or between groups were found on any performance measures. Among affected youth, parental education level correlated positively with (1) cognitive vocabulary scores and cognitive composite scores; (2) educational achievement for mathematics, reading, and composite scores. CONCLUSION: Youth affected with HED and unaffected matched peers have similar profiles on standardized measures of cognition, educational achievement, and adaptive functioning although children with HED may be at increased risk for ADHD.
Assuntos
Displasia Ectodérmica/psicologia , Hipo-Hidrose/psicologia , Educação de Pacientes como Assunto/métodos , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos Transversais , Displasia Ectodérmica/complicações , Feminino , Humanos , Hipo-Hidrose/complicações , MasculinoRESUMO
There are little data concerning clinical characteristics of women with Tourette disorder and chronic tic disorders in the extant literature and what is available mostly focuses on treatment-seeking individuals. The present research was conducted to provide a phenomenological characterization of tic disorders among 185 adult women with tic disorders. In addition to providing a descriptive overview of specific tic symptoms, tic severity, self-reported history of other psychiatric conditions, and impairment/lifestyle impact due to tics, this study compares 185 women and 275 men between 18 and 79 years old with tic disorders (who completed an identical battery of measures) based on demographic, social/economic status indicators, psychiatric variables (comorbidity, family psychiatric history, symptom presentation), adaptive functioning/quality of life, and impairment variables among a nonclinical adult sample. Finally, this research examines the relationship between tic severity and impairment indicators among women with tics. Sixty-eight percent of women in our sample reported severe motor tics and 40% reported severe phonic tics. Our exploratory data suggest that a sizeable number of adult women with persistent tics are suffering from psychiatric comorbidity and psychosocial consequences such as underachievement and social distress. Tic severity in women may be associated with lifestyle interference as well as with symptoms of depression and anxiety, and such symptoms may be more common among women with tics than in men with tics.
Assuntos
Atividades Cotidianas , Adaptação Psicológica , Efeitos Psicossociais da Doença , Qualidade de Vida , Síndrome de Tourette/reabilitação , Adulto , Idoso , Ansiedade/epidemiologia , Comorbidade , Depressão/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Fatores Sexuais , Fatores Socioeconômicos , Transtornos de Tique/diagnóstico , Transtornos de Tique/epidemiologia , Transtornos de Tique/psicologia , Síndrome de Tourette/epidemiologia , Síndrome de Tourette/psicologia , Estados Unidos/epidemiologiaRESUMO
Chronic tic disorders including Tourette syndrome have negative impact across multiple functional domains. We explored associations between peer victimization status and tic subtypes, premonitory urges, internalizing symptoms, explosive outbursts, and quality of life among youth with chronic tic disorders, as part of the internet-based omnibus Tourette Syndrome Impact Survey. A mixed methods design combined child self-report and parental proxy-report (i.e., parent reporting on the child) demographic and quantitative data for affected youth ages 10-17 years addressing gender, mean age, ethnicity and other socioeconomic features, and presence of tic disorders and co-occurring psychiatric disorders. Peer "Victim" versus "Non-victim" status was determined using a subset of four questions about being bullied. "Victim" status was identified for those youth who endorsed the frequency of the occurrence of being bullied in one or more of the four questions as "most of the time" or "all of the time". Data from 211 eligible youth respondents and their parents/guardians showed 26% reporting peer victimization. Victim status was associated with greater tic frequency, complexity and severity; explosive outbursts; internalizing symptoms; and lower quality of life. Peer victimization among youth with chronic tic disorders is common and appears associated with tic morbidity, anxiety, depression, explosive outbursts, and poorer psychosocial functioning. Anticipatory guidance, specific bullying screening and prevention, and further studies are indicated in this population.
Assuntos
Bullying/psicologia , Vítimas de Crime/psicologia , Grupo Associado , Transtornos de Tique/psicologia , Síndrome de Tourette/psicologia , Adolescente , Transtornos de Ansiedade/psicologia , Criança , Transtorno Depressivo/psicologia , Feminino , Humanos , Controle Interno-Externo , Masculino , Programas de Rastreamento , Transtorno Obsessivo-Compulsivo/psicologia , Qualidade de Vida/psicologia , Ajustamento SocialRESUMO
The current study examined relationships between tic severity and both functional impairment and perceived quality of life (QOL) in adults with a chronic tic disorder. The authors explored whether these relationships were moderated by anxiety and depressive symptoms. Five-hundred adults with Tourette's Disorder, Chronic Motor Tic Disorder, or Chronic Vocal Tic Disorder participated in a comprehensive self-report internet-based survey. Anxiety and depressive symptoms moderated the relationship between tic severity and functional impairment such that stronger relationships were documented in participants with elevated depressive or anxious symptoms. Limitations and implications for research and clinical practice are discussed.
Assuntos
Ansiedade/psicologia , Depressão/psicologia , Qualidade de Vida/psicologia , Transtornos de Tique/psicologia , Análise de Variância , Inquéritos Epidemiológicos , Humanos , Internet , Escalas de Graduação Psiquiátrica , Autorrelato , Índice de Gravidade de DoençaRESUMO
Prior research has demonstrated that chronic tic disorders (CTD) are associated with functional impairment across several domains. However, methodological limitations, such as data acquired by parental report, datasets aggregated across child and adult samples, and small treatment-seeking samples, curtail interpretation. The current study explored the functional impact of tics among youth in a large, "virtual" community sample. An Internet-based survey was completed by families with children who had CTD. The sample included 740 parents and 232 of their children (ages 10-17 years). The survey assessed impact across five functional domains: physical, social, familial, academic, and psychological. Health-related quality of life and perceptions of discrimination resulting from tics were also assessed. Results suggest that (1) youth with CTD experience mild to moderate functional impairment, (2) impairment is generally positively correlated with tic severity, (3) children with CTD plus one or more co-occurring psychiatric conditions tend to have greater functional impairment, and (4) a notable portion of youth with CTD experience discrimination due to tics. Implications and limitations of these findings are discussed.
Assuntos
Efeitos Psicossociais da Doença , Qualidade de Vida/psicologia , Transtornos de Tique/psicologia , Adolescente , Ansiedade/psicologia , Criança , Emoções , Feminino , Inquéritos Epidemiológicos , Humanos , Masculino , Psicometria , Índice de Gravidade de Doença , Inquéritos e QuestionáriosAssuntos
Discinesias/diagnóstico , Discinesias/tratamento farmacológico , Criança , Coreia/diagnóstico , Coreia/etiologia , Dopaminérgicos/uso terapêutico , Discinesia Induzida por Medicamentos/tratamento farmacológico , Discinesias/etiologia , Distonia/diagnóstico , Distonia/tratamento farmacológico , Distonia/etiologia , Humanos , Levodopa/uso terapêutico , Lúpus Eritematoso Sistêmico/complicações , Mioclonia/diagnóstico , Mioclonia/etiologia , Tremor/diagnóstico , Tremor/etiologiaAssuntos
Transtorno de Movimento Estereotipado/diagnóstico , Transtorno de Movimento Estereotipado/terapia , Transtornos de Tique/diagnóstico , Transtornos de Tique/terapia , Adolescente , Distribuição por Idade , Terapia Comportamental/métodos , Criança , Pré-Escolar , Terapia Combinada , Tratamento Farmacológico , Feminino , Humanos , Incidência , Masculino , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/epidemiologia , Transtornos dos Movimentos/terapia , Prognóstico , Distribuição por Sexo , Transtorno de Movimento Estereotipado/epidemiologia , Transtornos de Tique/epidemiologia , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/epidemiologia , Síndrome de Tourette/terapiaRESUMO
The aims of this descriptive study were to examine the prevalence and associations of coprophenomena (involuntary expression of socially unacceptable words or gestures) in individuals with Tourette syndrome. Participant data were obtained from the Tourette Syndrome International Database Consortium. A specialized data collection form was completed for each of a subset of 597 consecutive new patients with Tourette syndrome from 15 sites in seven countries. Coprolalia occurred at some point in the lifetime of 19.3% of males and 14.6% of females, and copropraxia in 5.9% of males and 4.9% of females. Coprolalia was three times as frequent as copropraxia, with a mean onset of each at about 11 years, 5 years after the onset of tics. In 11% of those with coprolalia and 12% of those with copropraxia these coprophenomena were one of the initial symptoms of Tourette syndrome. The onsets of tics, coprophenomena, smelling of non-food objects, and spitting were strongly intercorrelated. Early onset of coprophenomena was not associated with its longer persistence. The most robust associations of coprophenomena were with the number of non-tic repetitive behaviors, spitting, and inappropriate sexual behavior. Although coprophenomena are a frequently feared possibility in the course of Tourette syndrome, their emergence occurs in only about one in five referred patients. Because the course and actual impact of coprophenomena are variable, additional prospective research is needed to provide better counseling and prognostic information.