Indications of Linkage and Association of Gilles de la Tourette Syndrome in Two Independent Family Samples: 17q25 Is a Putative Susceptibility Region

Gilles de la Tourette syndrome (GTS) is characterized by multiple motor and phonic tics and high comorbidity rates with other neurobehavioral disorders. It is hypothesized that frontal-subcortical pathways and a complex genetic background are involved in the etiopathogenesis of the disorder. The genetic basis of GTS remains elusive. However, several genomic regions have been implicated. Among them, 17q25 appears to be of special interest, as suggested by various independent investigators. In the present study, we explored the possibility that 17q25 contributes to the genetic component of GTS. The initial scan of chromosome 17 performed on two large pedigrees provided a nonparametric LOD score of 2.41 near D17S928. Fine mapping with 17 additional microsatellite markers increased the peak to 2.61 (P=.002). The original families, as well as two additional pedigrees, were genotyped for 25 single-nucleotide polymorphisms (SNPs), with a focus on three genes in the indicated region that could play a role in the development of GTS, on the basis of their function and expression profile. Multiple three-marker haplotypes spanning all three genes studied provided highly significant association results (P<.001). An independent sample of 96 small families with one or two children affected with GTS was also studied. Of the 25 SNPs, 3 were associated with GTS at a statistically significant level. The transmission/disequilibrium test for a three-site haplotype moving window again provided multiple positive results. The background linkage disequilibrium (LD) of the region was studied in eight populations of European origin. A complicated pattern was revealed, with the pairwise tests producing unexpectedly high LD values at the telomeric TBCD gene. In conclusion, our findings warrant the further investigation of 17q25 as a candidate susceptibility region for GTS

From phenomenology to a neurophysiological understanding of hallucinations in children and adolescents

Typically reported as vivid, multisensory experiences which may spontaneously resolve, hallucinations are present at high rates during childhood. The risk of associated psychopathology is a major cause of concern. On the one hand, the risk of developing further delusional ideation has been shown to be reduced by better theory of mind skills. On the other hand, ideas of reference, passivity phenomena, and misidentification syndrome have been shown to increase the risk of self-injury or heteroaggressive behaviors. Cognitive psychology and brain-imaging studies have advanced our knowledge of the mechanisms underlying these early-onset hallucinations. Notably, specific functional impairments have been associated with certain phenomenological characteristics of hallucinations in youths, including intrusiveness and the sense of reality. In this review, we provide an update of associated epidemiological and phenomenological factors (including sociocultural context, social adversity, and genetics, considered in relation to the psychosis continuum hypothesis), cognitive models, and neurophysiological findings concerning hallucinations in children and adolescents. Key issues that have interfered with progress are considered and recommendations for future studies are provided

Comorbidity of autistic disorder in children and adolescents

Although considerable research has been done on various aspects of autism, information about the prevalence of coincident psychiatric disorders that may complicate this syndrome, is negligible. In this paper, we present preliminary data on the presentation of other psychiatric disorders in children and adolescents with autism. Out of an outpaticent sample of 68 autistic children and adolescents, 6 (9%) presented with an associated psychiatric disorder. Depression was the most common diagnosis. None of the patients was given a diagnosis of schizophrenia. Clinical and research implications of the findings are discussed. Bien qu'une recherche considérable ait été enterprise concenant les différents aspects de l'autisme, l'information sur la prévalence des troubles psychiatriques coïcidant et pouvant compliquer ce syndrome reste négligeable. Dans ce travail, nous présentons des faits préliminaires concernant les autres troubles psychiatriques chez les enfants et les adolescents avec autisme. Parmi un échantillon de 68 enfants et adolescents autistes vus en consultation: 6 (9%) présentaient un trouble psychiatrique associé La dépressio était le diagnostic le plus commun. Aucun des patients n'a eu un diagnostic de schizophrénie. Les implications de ces faits pour la clinique et la recherche sont discutées. Obwohl zu verschiedenen Aspekten des Autismus viel geforscht wurde, gibt es kaum Informationen zur koinzidentiellen Prävalenz von psychiatrischen Störungen, die das Syndrom komplizieren könne. In dieser Arbeit stellen wir vorläufige Daten über begleitende psychiatrische Störungen bei Kindern und Jugedlichen mit Autismus vor. Von 68 ambulant behandelten Kindern und Jugendlichen mit Autismus zeigten 9% eine assoziierte psychiatrische Störung. Depression war die häufigste Diagnose. Bei keinem der Patienten war die Diagnose Schizophrenie gestellt worden. Klinische und wissenschaftliche Implikationen dieser Befunde werden diskutiert.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/41754/1/787_2005_Article_BF02094180.pd

European clinical guidelines for Tourette syndrome and other tic disorders. Part II: pharmacological treatment

To develop a European guideline on pharmacologic treatment of Tourette syndrome (TS) the available literature was thoroughly screened and extensively discussed by a working group of the European Society for the Study of Tourette syndrome (ESSTS). Although there are many more studies on pharmacotherapy of TS than on behavioral treatment options, only a limited number of studies meets rigorous quality criteria. Therefore, we have devised a two-stage approach. First, we present the highest level of evidence by reporting the findings of existing Cochrane reviews in this field. Subsequently, we provide the first comprehensive overview of all reports on pharmacological treatment options for TS through a MEDLINE, PubMed, and EMBASE search for all studies that document the effect of pharmacological treatment of TS and other tic disorders between 1970 and November 2010. We present a summary of the current consensus on pharmacological treatment options for TS in Europe to guide the clinician in daily practice. This summary is, however, rather a status quo of a clinically helpful but merely low evidence guideline, mainly driven by expert experience and opinion, since rigorous experimental studies are scarce