Computerized Response Inhibition Training For Children With Trichotillomania

Evidence suggests that trichotillomania is characterized by impairment in response inhibition, which is the ability to suppress pre-potent/dominant but inappropriate responses. This study sought to test the feasibility of computerized response inhibition training for children with trichotillomania. Twenty-two children were randomized to the 8-session response inhibition training (RIT; n = 12) or a waitlisted control (WLT; n = 10). Primary outcomes were assessed by an independent evaluator, using the Clinical Global Impression-Improvement (CGI-I), and the NIMH Trichotillomania Severity (NIMH-TSS) and Impairment scales (NIMH-TIS) at pre, post-training/waiting, and 1-month follow-up. Relative to the WLT group, the RIT group showed a higher response rate (55% vs. 11%) on the CGI-I and a lower level of impairment on the NIMH-TIS, at post-training. Overall symptom reductions rates on the NIMH-TSS were 34% (RIT) vs. 21% (WLT) at post-training. The RIT\u27s therapeutic gains were maintained at 1-month follow-up, as indicated by the CGI-I responder status (= 66%), and a continuing reduction in symptom on the NIMH-TSS. This pattern of findings was also replicated by the 6 waitlisted children who received the same RIT intervention after post-waiting assessment. Results suggest that computerized RIT may be a potentially useful intervention for trichotillomania

J Med Genet

BACKGROUND: Mitochondrial DNA (mtDNA) diseases are rare disorders whose prevalence is estimated around 1 in 5000. Patients are usually tested only for deletions and for common mutations of mtDNA which account for 5-40% of cases, depending on the study. However, the prevalence of rare mtDNA mutations is not known. METHODS: We analysed the whole mtDNA in a cohort of 743 patients suspected of manifesting a mitochondrial disease, after excluding deletions and common mutations. Both heteroplasmic and homoplasmic variants were identified using two complementary strategies (Surveyor and MitoChip). Multiple correspondence analyses followed by hierarchical ascendant cluster process were used to explore relationships between clinical spectrum, age at onset and localisation of mutations. RESULTS: 7.4% of deleterious mutations and 22.4% of novel putative mutations were identified. Pathogenic heteroplasmic mutations were more frequent than homoplasmic mutations (4.6% vs 2.8%). Patients carrying deleterious mutations showed symptoms before 16 years of age in 67% of cases. Early onset disease (16 years) were associated with mutations in tRNA genes. MTND5 and MTND6 genes were identified as 'hotspots' of mutations, with Leigh syndrome accounting for the large majority of associated phenotypes. CONCLUSIONS: Rare mitochondrial DNA mutations probably account for more than 7.4% of patients with respiratory chain deficiency. This study shows that a comprehensive analysis of mtDNA is essential, and should include young children, for an accurate diagnosis that is now accessible with the development of next generation sequencing technolog

Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations

International audienceArthrogryposis is a descriptive term defining a sign. It describes a set of joint contractures, sometimes identifiable in utero, present from birth and nonprogressive. This term includes a heterogeneous group of diseases, of neurological, neuromuscular, genetic or mechanical origin. The common physiopathological mechanism is fetal immobility syndrome. Two types of classification have been developed: a clinical one (types I, II and III) and an etiological one. The main aim of this study was to define a standardized protocol for etiological investigation based on a descriptive analysis of the various etiologies identified in a population of children followed up for arthrogryposis. Its secondary aim was to assess first the comprehensiveness and relevance of the complementary assessment and second the way in which the classifications proposed by Professor Judith Goslin Hall are applied

Maladies neuromusculaires congénitales à expression respiratoire néonatale à l’exclusion de la dystrophie myotonique de type 1 et de l’amyotrophie spinale infantile. Stratégie d’exploration d’après une série de 19 enfants

International audienceApart from spinal muscular atrophy (SMA) and myotonic dystrophy type 1 (DM1), congenital neuromuscular diseases with early neonatal symptoms mean diagnostic and prognostic challenges mainly when infants require ventilatory support

Myopathies constitutionnelles : place des examens complémentaires

International audienc

Vertebroplastia percutánea guiada por tomografía para el manejo del dolor en pacientes con fractura del cuerpo vertebral

Resumen Objetivo  Describir la técnica y resultados en cuanto a la mejoría del dolor y complicaciones al realizar este procedimiento mediante guía por tomografía computada. Materiales y Métodos  Estudio observacional descriptivo de una serie de 108 pacientes a quienes se les realizó vertebroplastia percutánea guiada por tomografía computada realizadas en dos hospitales universitarios, entre mayo 2007 y mayo 2017. Todos los procedimientos se realizaron de forma ambulatoria con anestesia local y se valoró el dolor mediante la escala visual análoga. Resultados  Se realizaron 125 vertebroplastias, en el 87,9% de los pacientes ( n  = 95) se realizó el procedimiento en un cuerpo vertebral, en el 8,3% ( n  = 9) y 3,7% ( n  = 4) de los pacientes se cementaron 2 y 3 vertebras respectivamente. El rango de dolor según la escala visual análoga (EVA) previo al tratamiento varió entre 5 y 10, donde un 94% ( n  = 102) de los pacientes manifestaban una intensidad 10/10. En el postratamiento el rango de dolor varió entre 0 a 7 donde el 98% de la población reportó un valor menor o igual a 3. Se presentaron 3 complicaciones: tromboembolismo pulmonar por metil-metacrilato, extravasación al plexo de Batson y extravasación al espacio interdiscal, cada una en tres pacientes diferentes. Conclusión  La vertebroplastia percutánea guiada por TC ofrece una indiscutible mejora inmediata del dolor en pacientes con fractura de uno o más cuerpos vertebrales, con una baja tasa de complicaciones

Assessing Environmental Consequences of Ticcing in Youth With Chronic Tic Disorders: The Tic Accommodation and Reactions Scale

Tics associated with Tourette syndrome and other chronic tic disorders (CTDs) often draw social reactions and disrupt ongoing behavior. In some cases, such tic-related consequences may function to alter moment-to-moment and future tic severity. These observations have been incorporated into contemporary biopsychosocial models of CTD phenomenology, but systematic research detailing the nature of the relationship between environmental consequences and ticcing remains scarce. This study describes the development of the Tic Accommodation and Reactions Scale (TARS), a measure of the number and frequency of immediate consequences for ticcing experienced by youth with CTDs. Thirty eight youth with CTDs and their parents completed the TARS as part of a broader assessment of CTD symptoms and psychosocial functioning. The TARS demonstrated good psychometric properties (i.e., internal consistency, parent-child agreement, convergent validity, discriminant validity). Differences between parent-reported and child-reported data indicated that children may provide more valid reports of tic-contingent consequences than parents. Although preliminary, results of this study suggest that the TARS is a psychometrically sound measure of tic-related consequences suited for future research in youth with CTDs