Search

Background and purpose: In 2020, health professionals witnessed a dramatic increase in referrals of young people with rapid onset of severe tic‐like behaviours. We assembled a working group to develop criteria for the clinical diagnosis of functional tic‐like behaviours (FTLBs) to help neurologists, pediatricians, psychiatrists, and psychologists recognize and diagnose this condition. Methods: We used a formal consensus development process, using a multiround, web‐based Delphi survey. The survey was based on an in‐person discussion at the European Society for the Study of Tourette Syndrome (ESSTS) meeting in Lausanne in June 2022. Members of an invited group with extensive clinical experience working with patients with Tourette syndrome and FTLBs discussed potential clinical criteria for diagnosis of FTLBs. An initial set of criteria were developed based on common clinical experiences and review of the literature on FTLBs and revised through iterative discussions, resulting in the survey items for voting. Results: In total, 24 members of the working group were invited to participate in the Delphi process. We propose that there are three major criteria and two minor criteria to support the clinical diagnosis of FTLBs. A clinically definite diagnosis of FTLBs can be confirmed by the presence of all three major criteria. A clinically probable diagnosis of FTLBs can be confirmed by the presence of two major criteria and one minor criterion. Conclusions: Distinguishing FTLBs from primary tics is important due to the distinct treatment paths required for these two conditions. A limitation of the ESSTS 2022 criteria is that they lack prospective testing of their sensitivity and specificity. [ABSTRACT FROM AUTHOR]

Background: Children and young people with long‐term physical health conditions (LTC) are known to have higher levels of co‐morbid mental health problems than medically healthy children. Evidence‐based treatments for mental health problems are effective in children who also have an LTC. This study aimed to explore the factors associated with participants' perceived acceptability and impact of a transdiagnostic mental health centre offering brief psychological assessment and treatment for children and young people and/or their families with mental health needs in the context of long term physical conditions. Methods: One‐hundred twenty‐eight patients attending the drop‐in centre were invited to participate. Overall, 35 participated (31 parents/carers; 4 children and young people) in semi‐structured interviews (either in person or by phone) exploring their experience of the centre. Interviews were audio‐recorded, transcribed and checked. Framework analysis was then conducted on all transcripts. Results: Overall, participants found the drop‐in centre highly acceptable and reported a positive experience. Reasons for this varied but broadly focused around four themes: (1) efficient sufficiency; (2) autonomy; (3) fusion of process and content factors and (4) (dis)parities of esteems and 'seeing both sides of the coin'. Conclusions: Participants found the intervention acceptable. A mental health drop‐in centre in a paediatric hospital appears to be a positive and valued adjunct to supplement existing mental health services. [ABSTRACT FROM AUTHOR]

The association between attention‐deficit/hyperactivity disorder (ADHD) and tuberous sclerosis complex (TSC) is widely reported, with support for the role of epilepsy, yet the mechanisms underlying the association across development are unclear. The Tuberous Sclerosis 2000 Study is a prospective longitudinal study of TSC. In Phase 1 of the study, baseline measures of epilepsy, cortical tuber load, and mutation were obtained with 125 children ages 0–16 years. In Phase 2, at an average of 8 years later, ADHD symptoms were measured for 81 of the participants. Structural equation modeling revealed an indirect pathway from genetic mutation, to cortical tuber load, to epileptic spasm severity in infancy, to ADHD symptoms in middle childhood and adolescence, in addition to a pathway linking current seizure severity to ADHD symptoms. Findings were retained when intelligence quotient (IQ) was entered as a correlated factor. The findings support a cascading developmental pathway to ADHD symptoms mediated by early‐onset and severe epilepsy in the first 2 years of life. This warrants detailed investigation of seizure characteristics and cognitive and behavioral sequelae associated with ADHD from early in life, to further the understanding of the association between ADHD and early‐onset epilepsy across syndromic and non‐syndromic populations. [ABSTRACT FROM AUTHOR]

Background and purpose: Between 2019 and 2022, there was a marked rise in adolescents/young adults seeking urgent help for functional tic‐like behaviours (FTLBs). Given the global scale of this phenomenon, we aimed to pool cases from different institutions in an international registry to better characterize this spectrum and facilitate future longitudinal observation. Methods: An international collaborative group from 10 tertiary referral centres for tic disorders collected retrospective data on FTLB patients who sought specialists' attention between the last quarter of 2019 and June 2022. An audit procedure was used for collection of data, which comprised demographics, course of presentation and duration, precipitating and predisposing factors, phenomenology, comorbidities, and pharmacological treatment outcome. Results: During the study period, we collected data on 294 patients with FTLBs, 97% of whom were adolescents and young adults and 87% of whom were female. FTLBs were found to have a peak of severity within 1 month in 70% of patients, with spontaneous remissions in 20%, and a very high frequency of complex movements (85%) and vocalizations (81%). Less than one‐fifth of patients had pre‐existing primary tic disorder, 66% had comorbid anxiety disorders, 28% comorbid depressive disorders, 24% autism spectrum disorder and 23% attention deficit/hyperactivity disorder. Almost 60% explicitly reported exposure to tic‐related social media content. The vast majority of pharmacologically treated patients did not report benefit with tic‐suppressing medications. Conclusions: Our data from the largest multicentre registry of FTLBs to date confirm substantial clinical differences from primary tic disorders. Social modelling was the most relevant contributing factor during the pandemic. Future longitudinal analyses from this database may help understand treatment approaches and responsiveness. [ABSTRACT FROM AUTHOR]

Aim: To examine the association between perinatal adversities and neurodevelopmental outcome in tuberous sclerosis complex (TSC). Method: The Tuberous Sclerosis 2000 study is a prospective, longitudinal UK study of TSC. In phase 1, mutation type, TSC family history, tuber characteristics, presence of cardiac rhabdomyomas, seizure characteristics, and intellectual ability were assessed in 125 children affected with TSC (64 females, 61 males; median age 39mo, range 4–254). In phase 2, 88 participants (49 females, 39 males; median age 148mo, range 93–323) were assessed for neurodevelopmental outcomes including intellectual ability, autism spectrum disorder, and attention‐deficit/hyperactivity disorder. Perinatal histories of 88 participants with TSC and 80 unaffected siblings were collected retrospectively using the Obstetric Enquiry Schedule and coded with a modified Gillberg Optimality Scale to measure levels of perinatal adversity. Data were analysed using Mann–Whitney U tests, Spearman's rank correlation, and linear regression with robust standard errors. Results: Children with familial TSC experienced significantly greater perinatal adversity than unaffected siblings. Perinatal adversity was higher in children with TSC‐affected mothers than those with unaffected mothers. There was no significant association between perinatal adversities and neurodevelopmental outcomes after controlling for confounders. Interpretation: Maternal TSC is a significant marker of elevated perinatal risk in addition to risks incurred by fetal genotype. Pregnancies complicated by maternal or fetal TSC require higher vigilance, and mechanisms underlying increased perinatal adversity require further research. What this paper adds: Higher perinatal adversity is associated with familial tuberous sclerosis complex (TSC).Maternal TSC was associated with higher frequencies of several perinatal risk markers.Paternal TSC was not associated with higher levels of perinatal adversity.Perinatal adversity levels in TSC1 and TSC2 subgroups did not differ significantly.Perinatal adversities were not associated with neurodevelopmental outcomes. What this paper adds: Higher perinatal adversity is associated with familial tuberous sclerosis complex (TSC).Maternal TSC was associated with higher frequencies of several perinatal risk markers.Paternal TSC was not associated with higher levels of perinatal adversity.Perinatal adversity levels in TSC1 and TSC2 subgroups did not differ significantly.Perinatal adversities were not associated with neurodevelopmental outcomes. This original article is commented on by Franz on pages 1184–1185 of this issue. [ABSTRACT FROM AUTHOR]

Aim: To investigate the interdependence between risk factors associated with long-term intellectual development in individuals with tuberous sclerosis complex (TSC).Method: The Tuberous Sclerosis 2000 Study is a prospective longitudinal study of individuals with TSC. In phase 1 of the study, baseline measures of intellectual ability, epilepsy, cortical tuber load, and mutation were obtained for 125 children (63 females, 62 males; median age=39mo). In phase 2, at an average of 8 years later, intellectual abilities were estimated for 88 participants with TSC and 35 unaffected siblings. Structural equation modelling was used to determine the risk pathways from genetic mutation through to IQ at phase 2.Results: Intellectual disability was present in 57% of individuals with TSC. Individuals without intellectual disability had significantly lower mean IQ compared to unaffected siblings, supporting specific genetic factors associated with intellectual impairment. Individuals with TSC who had a slower gain in IQ from infancy to middle childhood were younger at seizure onset and had increased infant seizure severity. Structural equation modelling indicated indirect pathways from genetic mutation, to tuber count, to seizure severity in infancy, through to IQ in middle childhood and adolescence.Interpretation: Early-onset and severe epilepsy in the first 2 years of life are associated with increased risk of long-term intellectual disability in individuals with TSC, emphasizing the importance of early and effective treatment or prevention of epilepsy.What This Paper Adds: Intellectual disability was present in 57% of individuals with tuberous sclerosis complex (TSC). Those with TSC without intellectual disability had significantly lower mean IQ compared to unaffected siblings. Earlier onset and greater severity of seizures in the first 2 years were observed in individuals with a slower gain in intellectual ability. Risk pathways through seizures in the first 2 years predict long-term cognitive outcomes in individuals with TSC. [ABSTRACT FROM AUTHOR]

Aim: To evaluate neuropsychiatric comorbidities in children and adolescents with hypothalamic hamartoma.Method: We retrospectively analysed case notes for all individuals with hypothalamic hamartoma referred to Great Ormond Street Hospital, London, between 2000 and 2016. In addition, a systematic review aiming to identify all previous paediatric case series was performed. Psychiatric symptoms, demographics, physical comorbidities, and cognitive functioning were recorded for all cases where possible. Analyses were performed to determine which factors were associated with psychopathology and potential mechanisms investigated.Results: Forty-six cases were included in the case series (28 males, 18 females; mean age at assessment 11y 8mo [1y 11mo-16y 11mo, SD 4y 0mo]). Twenty-nine papers representing data from 264 cases met inclusion criteria for the systematic review. Overall, at least 50% of cases presented with psychopathology. Epilepsy, intellectual disability, and male sex were associated with externalizing disorders (attention-deficit/hyperactivity disorder, conduct and oppositional defiance disorders, and rage attacks). Intellectual disability mediated the effects of epilepsy on externalizing psychopathology. No factors were associated with internalizing disorders (anxiety and depressive disorders), although these were not well reported.Interpretation: Psychiatric comorbidities are highly prevalent in the presentation of paediatric hypothalamic hamartoma. The aetiology of psychopathology comprises a range of interacting biological and psychosocial factors with particular influence from epilepsy. Further research is required to achieve an evidence base for treatment.What This Paper Adds: Over half of children with hypothalamic hamartoma present with psychiatric comorbidity. Externalizing and internalizing disorders are present in approximately 60% and 30% of children with hypothalamic hamartomas respectively. Epilepsy and male sex are associated with externalizing psychopathology. Intellectual disability mediates the association between epilepsy and externalizing symptoms. No clear associations are evident for internalizing disorders or precocious puberty. [ABSTRACT FROM AUTHOR]

The coronavirus pandemic has highlighted the need for remote technologies to be used in child and adolescent mental health services. With the UK being placed in lockdown one week before a scheduled 'face‐to‐face' low‐intensity CBT training day due to COVID‐19, there was a need for rapid adaptations to be made to the content, structure and format of a training day for practitioners in mental health services, to suit the online environment. The content covered the core areas of low‐intensity CBT in children and adolescents. Findings showed that the one‐day low‐intensity training day increased knowledge and understanding in all key areas measured, and was positively received, providing further evidence for the effectiveness and acceptability of remote delivery. Given discussed benefits of remote delivery, as well as rapid developments in technologies helping to address some of the challenges raised, going forward, remote delivery could continue to be beneficial for increasing access to much needed evidence‐based interventions. [ABSTRACT FROM AUTHOR]

Background: Attention deficit hyperactivity disorder is increased in children with intellectual disability. Previous research has suggested stimulants are less effective than in typically developing children but no studies have titrated medication for individual optimal dosing or tested the effects for longer than 4 weeks. Method: One hundred and twenty two drug-free children aged 7-15 with hyperkinetic disorder and IQ 30-69 were recruited to a double-blind, placebo-controlled trial that randomized participants using minimization by probability, stratified by referral source and IQ level in a one to one ratio. Methylphenidate was compared with placebo. Dose titration comprised at least 1 week each of low (0.5 mg/kg/day), medium (1.0 mg/kg/day) and high dose (1.5 mg/kg/day). Parent and teacher Attention deficit hyperactivity disorder (ADHD) index of the Conners Rating Scale-Short Version at 16 weeks provided the primary outcome measures. Clinical response was determined with the Clinical Global Impressions scale (CGI-I). Adverse effects were evaluated by a parent-rated questionnaire, weight, pulse and blood pressure. Analyses were by intention to treat. Trial registration: ISRCTN 68384912. Results: Methylphenidate was superior to placebo with effect sizes of 0.39 [95% confidence intervals (CIs) 0.09, 0.70] and 0.52 (95% CIs 0.23, 0.82) for the parent and teacher Conners ADHD index. Four (7%) children on placebo versus 24 (40%) of those on methylphenidate were judged improved or much improved on the CGI. IQ and autistic symptoms did not affect treatment efficacy. Active medication was associated with sleep difficulty, loss of appetite and weight loss but there were no significant differences in pulse or blood pressure. Conclusions: Optimal dosing of methylphenidate is practical and effective in some children with hyperkinetic disorder and intellectual disability. Adverse effects typical of methylphenidate were seen and medication use may require close monitoring in this vulnerable group. [ABSTRACT FROM AUTHOR]

Background Paediatric obsessive-compulsive disorder ( OCD) often goes undetected, delaying access to evidence-based treatment. This study aimed to assess the utility of a computerised diagnostic tool, the Development and Well-Being Assessment ( DAWBA), in detecting OCD and comorbidity in youth. Method A total of 51 young people referred to a specialist OCD service between September 2007 and July 2008 completed the DAWBA prior to clinical assessment. Computer-rated and clinician-rated DAWBA diagnoses were compared with those assigned by the specialist clinic. Results The computer-rated and clinician-rated DAWBA correctly classified OCD in 71% and 77% of cases respectively. Compared to consensus diagnoses, the computer-rated DAWBA tended to over-diagnose comorbidity, while the clinician-rated DAWBA diagnoses of comorbidity corresponded well with the consensus. Conclusions The DAWBA has potential value in detecting OCD as well as comorbid disorders, and could be a cost-effective method for diagnosing OCD and related problems. [ABSTRACT FROM AUTHOR]

The monozygotic (MZ) twin differences method was used to examine nonshared environmental aspects of the association of parenting (punitive and constructive discipline), negative life events (independent and dependent), and peers (antisocial and prosocial) with adolescent depressive symptoms in terms of sequelae, risk, and maintaining factors. Two self-report booklets were completed by 328 MZ twin pairs aged 12–19 years, 6 months apart. Increased punitive discipline and negative life events were found to be relevant nonshared environmental factors that followed depression. Negative life events were the only factor that had a direct nonshared environmental association with concurrent depressive symptoms in adolescents independent of previous depressive symptoms, and all other study variables. [ABSTRACT FROM AUTHOR]