A Qualitative Exploration of the Experiences of Children and Adolescents with Tourette Syndrome.

OBJECTIVE: The purpose of this qualitative study was to explore the experiences of youth with Tourette Syndrome (TS). METHOD: Thirteen participants with TS were recruited from a large tertiary care hospital to complete semi-structured interviews and two questionnaires pertaining to demographic information and tic severity. Thematic analysis was utilized to systematically analyze the data. RESULTS: Three main themes were identified: 1) beliefs about TS; 2) TS related distress and impairment; and, 3) coping with TS. CONCLUSION: The findings from this study suggest that most participants were aware of their tics but unaware of the cause of tics/TS. The interviews also highlighted that, for most participants, TS caused emotional, social, physical, and/or occupational impairment. Despite their distress, participants provided several suggestions for coping with TS and for supporting those who are diagnosed with this condition.

OBJECTIF: Cette étude qualitative visait à explorer les expériences des adolescents souffrant du syndrome de Gilles de La Tourette (SGT). MÉTHODE: Treize participants souffrant du SGT ont été recrutés dans un grand hôpital de soins tertiaires pour répondre à des entrevues semi-structurées et à deux questionnaires portant sur les données démographiques et la gravité des tics. Une analyse thématique a servi à analyser systématiquement les données. RÉSULTATS: Trois thèmes principaux se sont dégagés: 1) les croyances sur le SGT; 2) la détresse et la déficience liées au SGT, 3) l'adaptation au SGT. CONCLUSION: Les résultats de cette étude suggèrent que la plupart des participants étaient conscients de leurs tics mais pas de la cause des tics et du SGT. Les entrevues ont aussi révélé que pour la plupart des participants, le SGT causait une déficience émotionnelle, sociale, physique, et/ou professionnelle. Malgré leur détresse, les participants ont fourni plusieurs suggestions pour s'adapter au SGT et soutenir ceux qui reçoivent un diagnostic de cette affection.

Patterned changes in urge ratings with tic suppression in youth with chronic tic disorders.

BACKGROUND: Premonitory urges are central to emerging behavioral models of chronic tic disorders (CTD). Urge reduction has been proposed as a behavioral explanation for tic maintenance and exacerbation as well as the efficacy of behavioral treatments. Prior investigations have produced inconsistent findings despite common methodologies. The current study evaluated the possibility that data aggregation obscures distinct and meaningful patterns of change in urge ratings when tics are freely expressed versus suppressed. METHOD: Participants (n = 12) included children with moderate-to-marked tic severity and noticeable premonitory urges. Tic frequencies and urge ratings were obtained at 15 s and 10-s intervals, respectively, across an alternating sequence of 10-min tic freely and 40-min tic suppression conditions. Patterns were established using a two step approach. RESULTS: Five distinct patterns of urge rating change emerged, suggesting data aggregation may obscure meaningful patterns in the urge-tic relationship when tics are completed versus suppressed. LIMITATIONS: Eligibility criteria may have unintentionally excluded younger affected children and included older participants with more severe tic disorders than commonly seen. Additional research with less stringent eligibility criteria and a larger sample size will help validate the results. CONCLUSIONS: The relationship between urges and tics is much more complex than previously theorized. Investigations that rely on global assessments of urge and tic severity and/or assume uniformity when aggregating participant data may obscure meaningful differences in the urge-tic relationship. Future investigations should examine the possibility that individual differences and/or developmental considerations modulate the functional urge-tic relationship.

Clinical Correlates and Predictors of Caregiver Strain in Children with Chronic Tic Disorders.

Although tics are the defining feature of chronic tic disorders (CTD), many children experience comorbid internalizing and externalizing problems that contribute to impairment across several domains, including family functioning. The current study examined clinical correlates and predictors of caregiver strain in parents of children with CTD. Participants were 123 children and adolescents diagnosed with a CTD who participated in a randomized-controlled trial of behavior therapy for reducing tics. Results showed that a combination of disruptive behavior, inattention/hyperactivity, and tic intensity best explained objective strain and a combination of inattention/hyperactivity and tic intensity were the best predictors of subjective caregiver strain. Implications of these findings for care providers are discussed.

A Comparison of Urge Intensity and the Probability of Tic Completion During Tic Freely and Tic Suppression Conditions.

Tic-suppression-based treatments (TSBTs) represent a safe and effective treatment option for Chronic Tic Disorders (CTDs). Prior research has demonstrated that treatment naive youths with CTDs have the capacity to safely and effectively suppress tics for prolonged periods. It remains unclear how tic suppression is achieved. The current study principally examines how effective suppression is achieved and preliminary correlates of the ability to suppress tics. Twelve youths, ages 10 to 17 years, with moderate-to-marked CTDs participated in an alternating sequence of tic freely and reinforced tic suppression conditions during which urge intensity and tic frequency were frequently assessed. Probability of tics occurring was half as likely following high-intensity urges during tic suppression (31%) in contrast to low-intensity urges during tic freely conditions (60%). Age was not associated with ability to suppress. Intelligence indices were associated with or trended toward greater ability to suppress tics. Attention difficulties were not associated with ability to suppress but were associated with tic severity. In contrast to our "selective suppression" hypothesis, we found participants equally capable of suppressing their tics regardless of urge intensity during reinforced tic suppression. Tic suppression was achieved with an "across-the-board" effort to resist urges. Preliminary data suggest that ability to suppress may be associated with general cognitive variables rather than age, tic severity, urge severity, and attention. Treatment naive youths appear to possess a capacity for robust tic suppression. TSBTs may bolster these capacities and/or enable their broader implementation, resulting in symptom improvement.

Autism traits in children and adolescents with Cornelia de Lange syndrome.

Cornelia de Lange syndrome (CdLS) is a cohesinopathy causing delayed growth and limb deficits. Individuals with CdLS have mild to profound intellectual disability and autistic features. This study characterizes the behavioral phenotype of children with CdLS, focusing on autistic features, maladaptive behaviors, and impact of age. Children with CdLS (5-18 years) were administered normed instruments to characterize autism features (Childhood Autism Rating Scale, CARS), maladaptive behaviors (Aberrant Behavior Checklist), and adaptive skills (Vineland Adaptive Behaviors Scales). CdLS features and severity were rated with Diagnostic Criteria for CdLS. Forty-one children with CdLS (23 females, 18 males) were classified as having "no autism" (n = 7; 17.1%), "mild autism" (n = 17; 41.4%), and "severe autism" (n = 17; 41.4%), using CARS scores. Characteristic items were abnormal emotional response, stereotypies, odd object use, rigidity, lack of verbal communication, and low intellectual functioning. Verbal communication deficits and repetitive behaviors were higher compared to sensory, social cognition, and behavior abnormalities (P ≤ 0.0001). Maladaptive behaviors associated with autism traits were stereotypies (P = 0.003), hyperactivity (P = 0.01), and lethargy (P = 0.03). Activities of daily living were significantly affected; socialization adaptive skills were a relative strength. However, with advancing age, both socialization (P < 0.0001) and communication (P = 0.001) domains declined significantly. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. While other adaptive skills are impacted, socialization adaptive skills are less affected. Advancing age can worsen communication and socialization deficits relative to neurotypical peers.

Variables Associated With Tic Exacerbation in Children With Chronic Tic Disorders.

Research has shown that motor and vocal tics fluctuate in frequency, intensity, and form in response to environmental and contextual cues. Behavioral models have proposed that some of the variation in tics may reflect context-dependent interactive learning processes such that once tics are performed, they are influenced by environmental contingencies. The current study describes the results of a function-based assessment of tics (FBAT) from a recently completed study comparing Comprehensive Behavioral Intervention for Tics (CBIT) with supportive psychotherapy. The current study describes the frequency with which antecedent and consequence variables were reported to exacerbate tics and the relationships between these functional variables and sample baseline characteristics, comorbidities, and measures of tic severity. Results showed that tic-exacerbating antecedents and consequences were nearly ubiquitous in a sample of children with chronic tic disorder. In addition, functional variables were related to baseline measures of comorbid internalizing symptoms and specific measures of tic severity.

Emotional and behavioral functioning in children with bladder exstrophy-epispadias complex: a developmental perspective.

OBJECTIVE: To evaluate the emotional and behavioral functioning of children with bladder exstrophy-epispadias complex (BEEC), taking into account developmental and gender considerations. This study also sought to overcome methodological limitations of previous studies evaluating psychological well-being of children with BEEC. METHODS: Eighty-six children were consecutively evaluated using the parent report version of the Behavior Assessment System for Children during visits to a multidisciplinary urology clinic. RESULTS: Results indicated normative emotional and behavioral functioning across the sample. However, there was a significant effect of age, such that older children consistently had worse internalizing symptoms and adaptive functioning. Males tended to have more externalizing problems as they aged, and also tended to have lower levels of adaptive functioning but this was independent of age. The level of psychological impairment was unrelated to the specific type of BEEC, and was also unrelated to whether or not the patient had undergone continence surgery. CONCLUSION: Children with BEEC have a greater likelihood of experiencing a wide range of emotional and behavioral problems as they reach adolescence. These findings point to the need to prevent potential psychological distress by intervening with these children before they become clinically impaired.

Glutamate drugs and pharmacogenetics of OCD: a pathway-based exploratory approach.

INTRODUCTION: Neuropharmacology research in glutamate-modulating drugs supports their development and use in the management of neuropsychiatric disorders, including major depression, Alzheimer's disorder and schizophrenia. Concomitantly, there is a growing use of these agents used in the treatment of obsessive-compulsive disorder (OCD). AREAS COVERED: This article provides a review of glutamate-modulating drugs used in the treatment of OCD. Specifically, the authors examine riluzole, N-acetylcysteine, d-cycloserine, glycine, ketamine, memantine and acamprosate as treatments. Furthermore, recent genetic epidemiology research findings are presented with a focus on the positional candidate genes SLC1A1 (a glutamate transporter), ADAR3 (an RNA-editing enzyme), RYR3 (a Ca(2+) channel), PBX1 (a homeobox transcription factor) and a GWAS candidate gene, DLGAP1 (a protein interacting with post-synaptic density). These genetic findings are submitted to a curated bioinformatics database to conform a biological network for discerning potential pharmacological targets. EXPERT OPINION: In the genetically informed network, known genes and identified key connecting components, including DLG4 (a developmental gene), PSD-95 (a synaptic scaffolding protein) and PSEN1 (presenilin, a regulator of secretase), conform a group of potential pharmacological targets. These potential targets can be explored, in the future, to deliver new therapeutic approaches to OCD. There is also the need to develop a better understanding of neuroprotective mechanisms as a foundation for future OCD drug discovery.

Effects of tic suppression: ability to suppress, rebound, negative reinforcement, and habituation to the premonitory urge.

The comprehensive behavioral intervention for tics (CBIT) represents a safe, effective non-pharmacological treatment for Tourette's disorder that remains underutilized as a treatment option. Contributing factors include the perceived negative consequences of tic suppression and the lack of a means through which suppression results in symptom improvement. Participants (n = 12) included youth ages 10-17 years with moderate-to-marked tic severity and noticeable premonitory urges who met Tourette's or chronic tic disorder criteria. Tic frequency and urge rating data were collected during an alternating sequence of tic freely or reinforced tic suppression periods. Even without specific instructions regarding how to suppress tics, youth experienced a significant, robust (72%), stable reduction in tic frequency under extended periods (40 min) of contingently reinforced tic suppression in contrast to periods of time when tics were ignored. Following periods of prolonged suppression, tic frequency returned to pre-suppression levels. Urge ratings did not show the expected increase during the initial periods of tic suppression, nor a subsequent decline in urge ratings during prolonged, effective tic suppression. Results suggest that environments conducive to tic suppression result in reduced tic frequency without adverse consequences. Additionally, premonitory urges, underrepresented in the literature, may represent an important enduring etiological consideration in the development and maintenance of tic disorders.

Behavior therapy for tics in children: acute and long-term effects on psychiatric and psychosocial functioning.

Children (n = 126) ages 9 to 17 years with chronic tic or Tourette disorder were randomly assigned to receive either behavior therapy or a control treatment over 10 weeks. This study examined acute effects of behavior therapy on secondary psychiatric symptoms and psychosocial functioning and long-term effects on these measures for behavior therapy responders only. Baseline and end point assessments conducted by a masked independent evaluator assessed several secondary psychiatric symptoms and measures of psychosocial functioning. Responders to behavior therapy at the end of the acute phase were reassessed at 3-month and 6-month follow-up. Children in the behavior therapy and control conditions did not differentially improve on secondary psychiatric or psychosocial outcome measures at the end of the acute phase. At 6-month posttreatment, positive response to behavior therapy was associated with decreased anxiety, disruptive behavior, and family strain and improved social functioning. Behavior therapy is a tic-specific treatment for children with tic disorders.

Clinical Characteristics of Children and Adolescents with a Primary Tic Disorder.

The clinical characteristics and rates of co-occurring psychiatric conditions in youth seeking treatment for a chronic tic disorder (CTD) were examined. Children and adolescents (N = 126) with a primary CTD diagnosis were recruited for a randomized controlled treatment trial. An expert clinician established diagnostic status via semi-structured interview. Participants were male (78.6%), Caucasians (84.9%), mean age 11.7 years (SD = 2.3) with moderate-to-severe tics who met criteria for Tourette's disorder (93.7%). Common co-occurring conditions included attention-deficit/hyperactivity disorder (ADHD; 26%), social phobia (21%), generalized anxiety disorder (20%), and obsessive-compulsive disorder (OCD; 19%). Motor and vocal tics with greater intensity, complexity, and interference were associated with increased impairment. Youth with a CTD seeking treatment for tics should be evaluated for non-OCD anxiety disorders in addition to ADHD and OCD. Despite the presence of co-occurring conditions, children with more forceful, complex, and/or directly interfering tics may seek treatment to reduce tic severity.

Schemas and Borderline Personality Disorder symptoms in incarcerated women.

There is increasing interest regarding the role of maladaptive cognition in Borderline Personality Disorder (BPD). The current study examined the relationship between early maladaptive schema (EMS) domains and BPD symptoms as well as whether schema domains account for the relationship between childhood maltreatment and BPD severity. Incarcerated women (N=105) were assessed for BPD symptoms via semi-structured diagnostic interview. Disconnection/Rejection and Impaired Limits were associated with BPD pathology although these domains shared variance with depression and antisocial personality disorder pathology, respectively. In addition, the relationship between childhood abuse and BPD severity was non-significant after controlling for schema domains. Related findings and the implications for cognitive treatment of BPD are discussed.