The clinical implications of high levels of autism spectrum disorder features in anorexia nervosa: a pilot study.

OBJECTIVE: This study examined autism spectrum disorder (ASD) features in relation to treatment completion and eating disorder psychopathology in anorexia nervosa (AN). METHOD: Thirty-two adult women were recruited from specialist eating disorder services. Features of ASD and disordered eating were measured. Premature termination of treatment was recorded to explore whether ASD traits had impact on early discharge. A healthy control group was also recruited to investigate ASD traits between clinical and nonclinical samples. RESULTS: Significant differences were found between the AN group and the healthy control group in obsessive-compulsive disorder traits, depression and anxiety and ASD traits, with significant differences between groups in Social Skill and Attention Switching. The AN group reported no significant relationship between disordered eating severity and ASD traits. No significant effect was found between ASD features and treatment completion. DISCUSSION: Raw data on premature termination of treatment, despite no statistic impact, showed that seven out of the eight participants with high features of ASD completed treatment as planned compared with 50% of those with low ASD traits. Unexpectedly, this suggests enhanced treatment adherence in ASD.

Autism spectrum disorders in eating disorder populations: a systematic review.

OBJECTIVE: Empirical research addressing cognitive processing deficits in eating disorders has noted an overlap with autism spectrum disorders. We conducted a systematic review investigating the prevalence of autism spectrum disorder in its entirety in eating disordered populations. METHODS: A comprehensive search for relevant studies was performed on five electronic databases. Studies were not included if solely focused on specific traits of autism spectrum disorders, for instance, theory of mind, set shifting or central coherence. Titles, abstracts and full texts were screened by two members of the research team independently. Quantitative studies published in English were included. RESULTS: A total of eight studies were found to fit the inclusion criteria. Results showed significantly raised prevalence rates of autism spectrum disorder in eating disorder populations compared with those in healthy control participants. DISCUSSION: This discovery has clinical implications and may assist in deciphering poor responses to conventional treatment, facilitating new psychological interventions for eating disorders.

Lifespan changes in working memory in fragile X premutation males.

Fragile X syndrome is the world's most common hereditary cause of developmental delay in males and is now well characterized at the biological, brain and cognitive levels. The disorder is caused by the silencing of a single gene on the X chromosome, the FMR1 gene. The premutation (carrier) status, however, is less well documented but has an emerging literature that highlights a more subtle profile of executive cognitive deficiencies that mirror those reported in fully affected males. Rarely, however, has the issue of age-related declines in cognitive performance in premutation males been addressed. In the present study, we focus specifically on the cognitive domain of working memory and its subcomponents (verbal, spatial and central executive memory) and explore performance across a broad sample of premutation males aged 18-69 years matched on age and IQ to unaffected comparison males. We further tease apart the premutation status into those males with symptoms of the newly identified neurodegenerative disorder, the fragile X-associated tremor/ataxia syndrome (FXTAS) and those males currently symptom-free. Our findings indicate a specific vulnerability in premutation males on tasks that require simultaneous manipulation and storage of new information, so-called executive control of memory. Furthermore, this vulnerability appears to exist regardless of the presence of FXTAS symptoms. Males with FXTAS symptoms demonstrated a more general impairment encompassing phonological working memory in addition to central executive working memory. Among asymptomatic premutation males, we observed the novel finding of a relationship between increased CGG repeat size and impairment to central executive working memory.

Autism spectrum disorder in children with and without epilepsy: impact on social functioning and communication.

AIM: To compare developmental and psychological functioning in two groups of children with autism spectrum disorder (asd), one with epilepsy and one without. METHODS: Sixty 7-17-year-old children in each group were recruited through a range of services in order to screen as representative a sample as possible. Parents were interviewed using the diagnostic interview for social and communication disorders (DISCO-11), and children were clinically examined and their medical histories assessed. RESULTS: The asd and epilepsy (asd+e) group demonstrated a substantially more even gender ratio, with a greater proportion of girls. They were more likely to have received later asd diagnoses and additional medical diagnoses. They also showed more motor difficulties, developmental delays and challenging behaviours, but were no more likely to be aloof and passive. The asd-only group experienced more abnormal fascinations with objects and used brief glances as a means of eye contact more than the asd+e group. CONCLUSION: Results support important between-group differences with diagnostic and therapeutic implications. asds often present atypically in children with seizures. However, both groups showed widely varying social and linguistic presentations.

Fragile X syndrome associated with tic disorders.

Movement disorders other than late onset tremor-ataxia in association with fragile X syndrome, the most common identifiable cause of inherited mental retardation, seem to be rare. Here we describe five male patients from three unrelated families with fragile X syndrome that presented with motor and phonic tics. Clinically, 4 patients fulfilled diagnostic criteria for Gilles de la Tourette syndrome (GTS) while 1 patient would have been diagnosed with an adult onset tic disorder. However, in all patients onset of tics was considerably later than in typical GTS. Three patients had atypical tics and two patients reported waxing and waning of tic intensity over time. Four of the 5 patients showed clinical signs typical of fragile X syndrome, in particular dysmorphic features, learning difficulties and speech and language problems that required special treatment. All patients had co-morbidities common to both GTS and fragile X syndrome. We suggest considering fragile X syndrome in GTS complicated by co-morbidity with late onset of atypical tics, in particular when learning disability and dysmorphic features are present.

Age-dependent cognitive changes in carriers of the fragile X syndrome.

Fragile X syndrome is a neurodevelopmental disorder that is caused by the silencing of a single gene on the X chromosome, the fragile X mental retardation 1 (FMR1) gene. Affected individuals display a unique neurocognitive phenotype that includes significant impairment in inhibitory control, selective attention, working memory, and visual-spatial cognition. In contrast, little is known about the trajectory and specificity of any cognitive impairment associated with the fragile X premutation (i.e., "carrier status") or its relationship with the recently identified neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). In the present study, we evaluated a broad sample of 40 premutation males (PM) aged 18-69 years matched on age and IQ to 67 unaffected comparison males (NC). Performance was compared across a range of cognitive domains known to be impaired in fragile X syndrome (i.e., "full mutation"). Tremor was also assessed using a self-report neurological questionnaire. PM displayed statistically significant deficits in their ability to inhibit prepotent responses, differentiating them from NC from age 30 onwards. With increasing age, the two groups follow different trajectories, with PM developing progressively more severe problems in inhibitory control. This deficit also has a strong co-occurrence in males displaying FXTAS-related symptomatology (p<.001). Selective attention was also impaired in PM but did not show any disproportionate aging effect. No other cognitive deficits were observed. We conclude that an inhibitory deficit and its impact across the lifespan are specifically associated with the fragile X premutation status, and may be a precursor for development of a more severe form of cognitive impairment or dementia, which has been reported in patients with the diagnosis of FXTAS.

Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X-associated Tremor/Ataxia syndrome: a controlled study.

Fragile X Syndrome is the most common heritable form of mental retardation caused by silencing of the FMR1 gene, which arises from intergenerational trinucleotide repeat expansion leading to full mutation. An intermediary carrier condition, known as the premutation, is characterized by expansion up to 200 repeats without concomitant gene silencing. This prevalent allelic variant was initially thought to be free of phenotypic effects. However, recent reports have identified a degenerative disease, Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) in older men as well as premature ovarian failure in women. Previously reports are inconsistent regarding the neuropsychiatric phenotype associated with premutation due to small sample sizes, ascertainment bias, lack of adequate control groups, administration of measures with poor psychometric properties, and the confounding effects of FXTAS. We addressed these problems by conducting a controlled study of male carriers (n = 40) of the premutation without manifest symptoms of FXTAS, comparing their responses on specific, reliable, and valid measures of neuropsychiatric functioning to those of individuals with shared family environment (n = 22) and non-carrier comparison males (n = 43). Multivariate analyses revealed that the premutation confers significant risk for working memory difficulties, an associated feature of Attention-Deficit Disorder. Furthermore, both the family controls and men with premutation exhibited higher rates of Alcohol Abuse as compared to non-carrier control men. These findings highlight the importance of recognizing the distinct phenotypic outcomes that characterize the Fragile X premutation and the subtle risk factors that can act as precursors to more significant psychiatric impairment.

Gas-fired power in the UK: Bridging supply gaps and implications of domestic shale gas exploitation for UK climate change targets.

There is a projected shortcoming in the fourth carbon budget of 7.5%. This shortfall may be increased if the UK pursues a domestic shale gas industry to offset projected decreases in traditional gas supply. Here we estimate that, if the project domestic gas supply gap for power generation were to be met by UK shale gas with low fugitive emissions (0.08%), an additional 20.4MtCO2e1 would need to be accommodated during carbon budget periods 3-6. We find that a modest fugitive emissions rate (1%) for UK shale gas would increase global emissions compared to importing an equal quantity of Qatari liquefied natural gas. Additionally, we estimate that natural gas electricity generation would emit 420-466MtCO2e (460 central estimate) during the same time period within the traded EU emissions cap. We conclude that domestic shale gas production with even a modest 1% fugitive emissions rate would risk exceedance of UK carbon budgets. We also highlight that, under the current production-based greenhouse gas accounting system, the UK is incentivized to import natural gas rather than produce it domestically.

The applicability of Webster-Stratton Parenting Programmes to deaf children with emotional and behavioural problems, and autism, and their families: annotation and case report of a child with autistic spectrum disorder.

This article describes a pilot project whose objective was to explore whether the Webster-Stratton Parenting Programme may be effective for hearing parents and their deaf children who present with conduct disorders and other emotional, behavioural and developmental problems. Outcome measures aimed at overall impact in decreasing behavioural problems and improving overall family function were used. Participants were hearing parents of deaf children referred to our specialist service whose assessment had recommended a parenting skills group as treatment of choice. The children had been diagnosed with behavioural problems with or without additional comorbidity. This pilot phase focused deliberately on one participant, in order to explore whether the approach justified further, more comprehensive evaluative research. Outcome was positive, suggesting that modified Webster-Stratton approaches may well be of use in deaf children of hearing parents.

Neurofibromatosis and Attentional Deficits: An Illustrative Example of the Common Association of Medical Causes with Behavioural Syndromes, Implications for General Child Mental Health Services.

BACKGROUND: Neurofibromatosis type 1 (NF1) is a common autosomal dominant gene disorder. In addition to well described physical and cognitive features certain behavioural patterns have been reported. Clear association has been shown between NF1 and attention deficit hyperactivity disorder (ADHD), with up to half of children with NF1 fulfilling DSM-IV diagnostic criteria for ADHD. This article aims to increase awareness among child mental health workers of the common link between genetic conditions (like NF1) and ADHD, thus improving diagnosis and intervention.

Illness Beliefs in Chronic Fatigue Syndrome: A Study Involving Affected Adolescents and their Parents.

BACKGROUND: The aim of the study was too investigate the beliefs of young people with Chronic Fatigue Syndrome/Myalgic Encephalomyelitis (CFS/ME) and their parents, about illness causes and management. METHOD: Twenty-one young people with CFS/ME and their parents participated in an open-ended interview. RESULTS: Infective causes were identified by the majority of respondents, and psychological ones by a minority. Many highlighted reducing activity and resting in symptom management. Positive and negative experiences of psychiatric and psychological treatments were recorded. CONCLUSION: Professionals should carefully explore the illness related beliefs of young people with CFS/ME and parental beliefs in order to agree treatment plans.

The management of ADHD and associated problems in a young person with cleidocranial dysostosis (CCD) and mild intellectual disability.

It is increasingly recognized that comorbidity is common in all fields of psychiatry, and furthermore, it is acknowledged that a large number of individuals with genetically determined conditions have associated behavioural phenotypes, and are more susceptible to particular psychiatric and psychological comorbidities than others. It is also recognized that the identification of such phenotypes enables clinicians to be more aware of the potential difficulties an individual may experience, and hence, facilitate early diagnosis, effective management and prevention, appropriate allocation of resources and psychoeducation for the individual and their family. We describe the case report of a girl with cleidocranial dysostosis (CCD), and comorbid intellectual disability and attention deficit hyperactivity disorder (ADHD), and suggest the possible existence of a behavioural phenotype. We also highlight the lack of an evidence base for the management of ADHD within the learning-disability population, and describe successful management utilizing the current evidence base, which exists for those of average intellectual ability.

Influence of Age, Gender, and Living Circumstances on Patterns of Attention-Deficit/Hyperactivity Disorder Medication Use in Children and Adolescents With or Without Intellectual Disabilities.

AIMS AND OBJECTIVES: The aim of the study was to determine whether there are differences in psychopharmacological practice for attention-deficit/hyperactivity disorder (ADHD) in children and adolescents dependent on the presence or absence of associated intellectual disability; and if there are, whether the differences are influenced by factors such as age, gender, and living circumstances. METHODOLOGY: A case-control cross-sectional design was used. Each arm of the study had a total of 107 children and adolescents aged 5-18 years. Case participants had diagnoses of having intellectual disability and ADHD; comparison participants had diagnoses of having ADHD, but no intellectual disability. Outcome measurements were (1) concurrent use of medications-single medication event as against concurrent multiple medication events-and (2) type of medication used-stimulants versus nonstimulants. Demographic factors considered were gender, age, and living circumstances. RESULTS: Male-to-female ratio in each group was 90:17. Mean age in the case group was 10.93 years (standard deviation [SD]: 3.39 years) and in the comparison group, 12.34 years (SD: 3.22 years). Seventy percent of the case group lived with their biological families, while 84% of the comparison group did so. In the case group, 7.5% were in residential school placements compared with only 0.9% of the comparison group. There were no statistically significant differences in broad measurements of outcomes between the case and comparison groups. Age appeared to be an important moderating factor for type of medication prescribed. Younger children with intellectual disabilities and ADHD were more likely to be established on nonstimulant medications than those with ADHD and no intellectual disabilities (p = 0.024, odds ratio: 1.8; 95% CI: 1.2-2.7). CONCLUSIONS: Being between the ages of 5 and 12 years and having intellectual disability and ADHD are associated with raised likelihood of being prescribed nonstimulant medications for ADHD. This difference is maintained irrespective of gender and living circumstances. Reasons for these differences in prescribing practice require further exploration.

Sensory Processing Difficulties in Opsoclonus-Myoclonus Syndrome: A Pilot Project of Presentation and Possible Prevalence.

Opsoclonus-myoclonus syndrome is a rare but serious neurological condition resulting in loss of control of eye movements, often accompanied by difficulties in posture and movement control with reports of sensory sensitivities potentially impacting on behavior. This pilot study characterizes the presence of atypical sensory behaviors in opsoclonus-myoclonus syndrome through questionnaire survey of a cohort of families. The Short Sensory Profile, Vineland Adaptive Behavior Scale, and Developmental Behaviour Checklist were distributed to 30 families; 16 were returned anonymously. Atypical sensory behaviors were identified in a large proportion (62.5%). Children reported as being more anxious showed greater sensitivity to auditory stimuli, U(14) 11, P = .026. This is consistent with recent recognition of more extensive disease neurocognitive effects in Opsoclonus-myoclonus syndrome. Further research is needed to increase understanding of the complex pathology of this disease and to provide indicators for sensory and behavioral as well as pharmacological interventions.

A Comparison of Parent and Therapist Ratings of Outcome in a Child Mental Health Clinic.

AIM: The study's aim was to ascertain how much parents and therapists agree about therapy outcome. METHOD: We contacted 50 recently helped families using postal questionnaires including a 7-item outcome scale derived from MAISY data system. We used a weighted kappa test to compare parents and therapists views. RESULTS: Response rate was 63.8%. Observed agreement was 73%, and expected agreement 54%, producing a kappa of 0.42 consistent with moderate parent-therapist agreement. DISCUSSION: Results are consistent with parents and therapists having similar perceptions of therapy outcome. It is important to monitor parental and professional views and the extent to which they coincide.

Fragile X syndrome: lifespan developmental implications for those without as well as with intellectual disability.

PURPOSE OF REVIEW: Advances in developmental neuropsychiatry and the mental health needs of people with intellectual disability are creating ever greater understanding of the critical associations between human genome variations and psychological functioning throughout lifespan and across the entire intellectual ability spectrum. This review highlights the recent developments and their clinical implications for people with fragile X syndrome. RECENT FINDINGS: There is substantial evidence for individuals of all ages and intellectual abilities being prone to psychological profiles determined not only by having a fragile X gene full mutation, but also by having premutations and intermediate alleles. The importance of these genetic contributors to mental life, if anything, increases with age. Premutation carriers are prone to neurodegenerative mid-life fragile X tremor-ataxia syndrome. Women with premutations experience premature ovarian insufficiency. Imbalances in the (gamma amino butyrie acid)-glutamate mediated postsynaptic cascade central neuronal pathways are a current focus of psychopharmacological enquiry, giving the hope of syndrome-specific medical treatments. SUMMARY: Findings from genetic, neurological, biochemical, psychological and pharmacological research are combining to revolutionize understanding of the pathogenesis of developmental and psychological disabilities affecting individuals with fragile X syndrome irrespective of age, intelligence level and gene mutation status. Results of syndrome-specific medication trials are awaited.

The use of clonidine for severe and intractable sleep problems in children with neurodevelopmental disorders--a case series.

This paper reports on the use of clonidine for the treatment of severe sleep problems associated with behavioural difficulties in children with neurodevelopmental disabilities. Data were obtained from reviewing the case notes of a series of six children with neurodevelopmental disorders of different nature and severity, presenting with problematic sleep. All children in this group showed maintained improvements in their sleep pattern following the use of clonidine with only mild side-effects reported.