ABBREVIATIONSASD Autism spectrum disorder CTG Cytosine-thymine-guanine DM1 Myotonic dystrophy type 1 AIM To investigate the psychiatric and cognitive phenotype in young individuals with the childhood form of myotonic dystrophy type 1 (DM1).METHOD Twenty-eight individuals (15 females, 13 males) with childhood DM1 (mean age 17y, SD 4.6, range 7-24y) were assessed using standardized instruments and cognitive testing of general intelligence, visual attention, and visual-spatial construction abilities.RESULTS Nineteen patients had repeated a school grade. The mean (SD) Full-scale IQ was 73.6 (17.5) and mean Verbal IQ was significantly higher than the mean Performance IQ: 80.2 (19.22) versus 72.95 (15.58), p=0.01. Fifteen patients had one or more diagnoses on the DSM-IV axis 1, including internalizing disorders (phobia, n=7; mood disorder, n=6; other anxiety disorders, n=5) and attention-deficit-hyperactivity disorder, inattentive subtype (n=8). Twelve out of 22 patients had alexithymia (inability to express feelings with words and to recognize and share emotional states). Cognitive testing found severe impairments in visual attention and visual-spatial construction abilities in four out of 18, and 14 out of 24 patients respectively. No diagnosis was correlated with the transmitting parent's sex or with cytosine-thymine-guanine (CTG) repeat numbers. Patients with severe visual-spatial construction disabilities had a significantly longer CTG expansion size than those with normal visual-spatial abilities (p=0.04).INTERPRETATION Children and adolescents with childhood DM1 have frequent diagnoses on DSM-IV axis 1, with internalizing disorders being the most common type of disorder. They also have borderline low intelligence and frequent impairments in attention and visual-spatial construction abilities.Myotonic dystrophy type 1 (DM1) is the most frequently inherited neuromuscular disease, with autosomal dominant transmission. The estimated incidence is one in 8000 people.1 DM1 is a progressive neuromuscular disorder caused by the expansion of a cytosine-thymine-guanine (CTG) trinucleotide repeat. The unstable CTG repeat sequence is located in the 3¢ untranslated region of the dystrophia myotonica-protein kinase (DMPK) gene on the long arm of chromosome 19. In the general population, the CTG repeat ranges from five to 37 units, whereas in DM1 it exceeds 50 units and can increase to several thousand units. Progressive expansion of CTG amplification appears unstable and is biased towards amplification. It explains both the anticipation phenomenon observed in DM1 pedigrees and the variable clinical expression among affected individuals.DM1 is classified according to clinical manifestations, severity, and age at onset.2 Four types of DM1 are distinguished:(1) a mild form with cataracts and minimal muscular or no symptoms with onset in middle or older age; (2) a typical form with neuromuscular symptomatology with onset in adolescence or early adult life; (3) a childhood form with learning disability ⁄ learning difficulties ofte...

Predictors of placebo response in internalizing disorders of youths parallel those in adult studies, with the exception of race. These predictors should be considered when designing placebo-controlled trials in youths to enhance findings of true drug-placebo differences.

This article examines a large cohort of previously suicidal adolescents, identifying those that surpassed threshold criteria for borderline personality disorder (BPD), according to the Abbreviated Diagnostic Interview of Borderlines (Ab-DIB), and determining the stability, correlates and predictors of BPD from early-to-late adolescence. Two hundred and eighty-six youth (mean baseline age 14.6 years; SD 1.5), presenting consecutively to a metropolitan pediatric hospital emergency department for evaluation of suicidality, were assessed at initial consultation for Axis I and II disorders and demographic and clinical variables. Two hundred and twenty-nine (80%) were re-assessed for those variables 4 years later and 204 (70.3%) had complete data sets at recruitment and follow-up. Previously suicidal youths who met BPD threshold on the Ab-DIB at recruitment were distinguishable at baseline from those who did not in conduct disorder symptoms (p < 0.003), lower levels of functioning (p < 0.001), drug use (p < 0.001), stressful life events (p < 0.003) and family relations (p < 0.001). The BPD diagnosis was consistent, according to this measure, at baseline and follow-up for 76% of participants. Four groups with respect to borderline pathology (persisting, remitting, emerging and never) were identified (ICC = 0.603, 95% CI = 0.40-0.78). Persistent BPD status was predictable by older age at presentation (p < 0.01) and level of functioning (p < 0.05). Eight percent were also suicidal at the 4-year follow-up. Using a self-report measure of BPD, we suggest that suicidal youth can indeed be diagnosed with the disorder at 14 years old, supporting the shift from DSM-IV to DSM-5, given what appears to be its temporal stability, differentiation of those suffering with considerable symptomatology or not, and predictors of its status in late adolescence. The low suicidality rate at follow-up indicates a good short-term prognosis.

Myotonic dystrophy type 1 (DM1) is the most frequent inherited neuromuscular disorder. The juvenile form has been associated with cognitive and psychiatric dysfunction, but the phenotype remains unclear. We reviewed the literature to examine the psychiatric phenotype of juvenile DM1 and performed an admixture analysis of the IQ distribution of our own patients, as we hypothesised a bimodal distribution. Two-thirds of the patients had at least one DSM-IV diagnosis, mainly attention deficit/hyperactivity disorder and anxiety disorder. Two-thirds had learning disabilities comorbid with mental retardation on one hand, but also attention deficit, low cognitive speed and visual spatial impairment on the other. IQ showed a bi-modal distribution and was associated with parental transmission. The psychiatric phenotype in juvenile DM1 is complex. We distinguished two different phenotypic subtypes: one group characterised by mental retardation, severe developmental delay and maternal transmission; and another group characterised by borderline full scale IQ, subnormal development and paternal transmission.

We reviewed the stability of the diagnosis of pervasive developmental disorder not otherwise specified (PDD-NOS). A Medline search found eight studies reiterating a diagnostic assessment for PDD-NOS. The pooled group included 322 autistic disorder (AD) and 122 PDD-NOS cases. We used percentage of individuals with same diagnose at Times 1 and 2 as response criterion. The pooled Relative Risk was 1.95 (p < 0.001) showing that AD diagnostic stability was higher than PDD-NOS. When diagnosed before 36 months PDD-NOS bore a 3-year stability rate of 35%. Examining the developmental trajectories showed that PDD-NOS corresponded to a group of heterogeneous pathological conditions including prodromic forms of later AD, remitted or less severe forms of AD, and developmental delays in interaction and communication.

BackgroundIn a previous report, we hypothesized that responses to placebo were high in child and adolescent depression because of specific psychopathological factors associated with youth major depression. The purpose of this study was to compare the placebo response rates in pharmacological trials for major depressive disorder (MDD), obsessive compulsive disorder (OCD) and other anxiety disorders (AD-non-OCD).Methodology and Principal FindingsWe reviewed the literature relevant to the use of psychotropic medication in children and adolescents with internalized disorders, restricting our review to double-blind studies including a placebo arm. Placebo response rates were pooled and compared according to diagnosis (MDD vs. OCD vs. AD-non-OCD), age (adolescent vs. child), and date of publication. From 1972 to 2007, we found 23 trials that evaluated the efficacy of psychotropic medication (mainly non-tricyclic antidepressants) involving youth with MDD, 7 pertaining to youth with OCD, and 10 pertaining to youth with other anxiety disorders (N = 2533 patients in placebo arms). As hypothesized, the placebo response rate was significantly higher in studies on MDD, than in those examining OCD and AD-non-OCD (49.6% [range: 17–90%] vs. 31% [range: 4–41%] vs. 39.6% [range: 9–53], respectively, ANOVA F = 7.1, p = 0.002). Children showed a higher stable placebo response within all three diagnoses than adolescents, though this difference was not significant. Finally, no significant effects were found with respect to the year of publication.ConclusionMDD in children and adolescents appears to be more responsive to placebo than other internalized conditions, which highlights differential psychopathology.

Sleep-wake patterns are rarely examined in adolescents with borderline personality disorder (BPD) or bipolar disorder (BD). Within a developmental perspective, this study explores the sleep-wake cycle of adolescents aged 12-17 years with BPD or BD and healthy controls (HC) during periods with and without entrainment by school/work schedules. Eighteen euthymic BPD, six euthymic BD, and 20 HC adolescents wore wrist actigraphy during nine consecutive days to assess sleep-wake patterns. During school/work days, BPD adolescents spent more time awake when they were in bed compared to HC and BD adolescents (p = 0.039). On schedule-free days, BPD and BD youths spent more time in bed compared to HC adolescents (p = 0.015). BPD adolescents woke up over 1 h later compared to HC (p = 0.003). Total sleep time was more variable between nights in BPD adolescents compared to the HC group (p = 0.031). Future research should explore if sleep-wake pattern disruptions are a cause or a consequence of BPD symptomatology in adolescents. Addressing sleep-wake pattern during clinical assessment and treatment of BPD adolescents may potentially reduce their symptoms; this therapeutic effect still needs to be evaluated.

To understand whether changes exist in the types of youths mental health problems addressed in emergency in a context of increasing demand, we conducted a retrospective chart review in an emergency care outpatient unit. Data from children and adolescents admitted at four different time periods (years 1981, 1992, 2002, and 2017) were compared to determine trends in terms of patients' characteristics, nature of the mental health problems and final care decisions. Between 1981 and 2017 there was a 3.85 times increase in the annual number of patients presenting to the emergency consultations. The proportion of youths being referred for anxiety or depressive symptoms sharply increased over time, while no differences were found for the proportion of aggressive behaviors and suicidal attempts. Anxiety disorders became the most frequent discharge psychiatric disorder in youths admitted in the emergency unit, rising from 5% in 1981 to 34% in 2017. Significant changes were also observed in the source of referral to the emergency unit; in particular emergency consultations in 2017 were about twice as likely as in 1981 to be requested directly by the family. This data suggested that the increased use of emergency services observed over the last decades is associated with significant changes in the patient and his/her family's demands about mental health difficulties. Such findings are worth considering for mental health interventions that aim to address the emergency overcrowding issue.