Jeremy Turk

Childhood onset neuropsychiatric disorders in adult eating disorder patients: a pilot study

BackgroundAutism spectrum disorders (ASD) have been suggested to be overrepresented in anorexia nervosa. This study aimed to explore the comorbidity of ASD and other childhood onset neuropsychiatric disorders (COND) [attention-deficit/hyperactivity disorder (AD/HD) and tic disorders] in a group of severe eating disorder (ED) patients.MethodThirty female ED patients from a specialist hospital clinic were examined on measures tapping into COND and personality disorders.ResultsIn our group of longstanding ED, 53% had at least one COND diagnosis; 23% had ASD, 17% had AD/HD, and 27% had a tic disorder.ConclusionsThese preliminary data suggest that COND may be common in patients with severe ED and should be kept in mind when treating these patients.

Fragile X Syndrome, Autism and Autistic Features

The relationship between fragile X syndrome and autism is reviewed. Results from a semi-structured questionnaire survey of development and behaviour in boys with fragile X syndrome, Downs syndrome and learning disability of unknown aetiology are presented. A behavioural profile characteristic of many boys with fragile X syndrome was identified which distinguished them from both other groups. Fragile X boys did not show more autism than boys with idiopathic learning disability but they did have a common autistic-like profile of communicatory and stereotypic disturbances, most notably delayed echolalia, repetitive speech and hand flapping. Boys with idiopathic learning disability showed difficulties more in areas of social functioning. Boys with Downs syndrome were characterized by fewer difficulties in social functioning and ritualistic/stereotypic tendencies but this might have been explained by subject ascertainment bias. Behavioural items distinguishing boys with fragile X significantly from both other groups retained their significance even when individuals with autism were excluded from statistical analysis. The findings provide further support for the notion of a behavioural phenotype in boys with fragile X syndrome.

Lifespan changes in working memory in fragile X premutation males

Fragile X syndrome is the worlds 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.

Low level alcohol consumption and the fetus

Abstinence from alcohol is the only safe message in pregnancy R ecently the media in the United Kingdom highlighted the messages presented by one of us (RASM) and researchers from other industrialised countries, that the only safe communication about alcohol consumption in pregnancy is that of abstinence. Unfortunately the scientific basis for this recommendation was not clarified in the media. We provide here examples of the evidence that has led the United States, Canada, Australia, and other countries to adopt the abstinence message. Fetal alcohol syndrome was first reported in the international literature by Smith and Jones in 1973.1 Before that, Lemoine published a series of 127 cases in France, highlighting the phenotypic presentation of people exposed to alcohol while pregnant.2 The full syndrome is characterised by a combination of short stature, neurocognitive deficits, and a specific triad of facial dysmorphology (short palpebral fissures, flat philtrum, and thin upper lip vermilion). Fetal alcohol spectrum disorder is an overarching term encompassing the behavioural diagnoses occur …

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.

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.

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.

Social, communicational, and behavioral deficits associated with ring X Turner syndrome

We describe the cognitive and behavioral characteristics of five individuals with a ring X chromosome. All subjects had a small active (early replicating) ring X chromosome. The X inactive specific transcript (XIST) locus was confirmed by fluorescent in situ hybridisation (FISH) to be present in all ring X chromosomes. Mental retardation was present in four individuals. All patients with or without mental retardation had a characteristic profile of aggression toward self and others, episodes of screaming, attentional problems, and impulsiveness. Autistic-like features were also present in all individuals and included limited communication, obsessive compulsive behavior, and social difficulties. In some cases the obsessive behavior was extreme and incapacitating. This characteristic behavioral profile may aid the diagnosis and future understanding of ring X.

Clinical, cytogenetic, and molecular analysis of three families with FRAXE.

The probe StB12.3 has been used to screen the FMR-1 gene in 42 pedigrees with a distal Xq fragile site for expansion of the CCG repeat and aberrant methylation of the FRAXA locus. Four families did not have a FRAXA mutation and were investigated further. Fluorescent in situ hybridisation (FISH) and molecular analyses showed that three of these families had an expansion at FRAXE and one at FRAXE. Detailed psychiatric, psychological, and behavioural features of three families with FRAXE identified in the study are presented. All the males who expressed FRAXE had a large methylated CCG repeat at FRAXF. All males with the mutation had some degree of mental handicap. This study illustrates the need for the FRAXE phenotype to be defined further.

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.