Visual scanning during emotion recognition in long-term recovered anorexia nervosa: An eye-tracking study.

Objective: To examine Facial Emotion Recognition (FER) and visual scanning behavior (eye-tracking) during FER in women long-term recovered from teenage-onset anorexia nervosa (recAN) with and without autism spectrum disorder (±ASD) and age-matched comparison women (COMP), using a sensitive design with facial emotion expressions at varying intensities in order to approximate real social contexts.

Method: Fifty-seven 38-47-year-old women (26 recAN of whom six with ASD, 31 COMP) participated in the study. They completed a non-verbal FER task, consisting of matching basic emotions at different levels of expression intensity with full emotional expressions.

Asperger syndrome in childhood - personality dimensions in adult life: temperament, character and outcome trajectories.

Background: Temperament and character have been shown to be important factors in understanding psychiatric and neurodevelopmental disorder. Adults with autism spectrum disorder (ASD) have repeatedly been shown to have a distinct temperament and character, but this has not been evaluated in relation to psychiatric comorbidity and ASD diagnostic stability.

Aims: To examine temperament and character in males that were diagnosed with ASD in childhood and followed prospectively over almost two decades.

Asperger syndrome in males over two decades: Quality of life in relation to diagnostic stability and psychiatric comorbidity.

This study examined objective quality of life (work, academic success, living situation, relationships, support system) and subjective quality of life (Sense of Coherence and Short-Form Health Survey-36) in an adult sample of males ( n = 50, mean age: 30 years) with Asperger syndrome diagnosed in childhood and followed prospectively over two decades. The association between long-term diagnostic stability of an autism spectrum disorder and/or comorbid psychiatric disorders with quality of life was also examined. The results showed great variability as regards quality of life.

Boys with Asperger Syndrome Grow Up: Psychiatric and Neurodevelopmental Disorders 20 Years After Initial Diagnosis.

We examined comorbid psychiatric and neurodevelopmental disorders in fifty adult males (mean age 30 years) with Asperger syndrome (AS) diagnosed in childhood and followed up prospectively for almost two decades (13-26 years). Only three of the 50 men had never met criteria for an additional psychiatric/neurodevelopmental diagnosis and more than half had ongoing comorbidity (most commonly either ADHD or depression or both). Any psychiatric comorbidity increased the risk of poorer outcome.

Extreme ("pathological") demand avoidance in autism: a general population study in the Faroe Islands.

Research into Pathological Demand Avoidance (PDA), which has been suggested to be a subgroup within the Autism Spectrum Disorder (ASD), is almost nonexistent in spite of the frequent reference to the condition in clinical practice. The total population of 15 to 24-year-olds in the Faroe Islands was screened for ASD, and 67 individuals were identified who met diagnostic criteria for ASD (corresponding to a general population prevalence of ASD of almost 1 %). Of these 67, 50 had parents who were interviewed using the Diagnostic Interview for Social and Communication Disorders (DISCO-11) which contains 15 "PDA-specific" items.

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of spine heads. Mutations in SHANK genes have been associated with autism spectrum disorders (ASD), but their prevalence and clinical relevance remain to be determined.

Vitamin d in the general population of young adults with autism in the faroe islands.

Vitamin D deficiency has been proposed as a possible risk factor for developing autism spectrum disorder (ASD). 25-Hydroxyvitamin D3 (25(OH)D3) levels were examined in a cross-sectional population-based study in the Faroe Islands. The case group consisting of a total population cohort of 40 individuals with ASD (aged 15-24 years) had significantly lower 25(OH)D3 than their 62 typically-developing siblings and their 77 parents, and also significantly lower than 40 healthy age and gender matched comparisons.

Heterozygous FA2H mutations in autism spectrum disorders.

Background: Widespread abnormalities in white matter development are frequently reported in cases of autism spectrum disorders (ASD) and could be involved in the disconnectivity suggested in these disorders. Homozygous mutations in the gene coding for fatty-acid 2-hydroxylase (FA2H), an enzyme involved in myelin synthesis, are associated with complex leukodystrophies, but little is known about the functional impact of heterozygous FA2H mutations. We hypothesized that rare deleterious heterozygous mutations of FA2H might constitute risk factors for ASD.

Autism in the Faroe Islands: diagnostic stability from childhood to early adult life.

Childhood autism or autism spectrum disorder (ASD) has been regarded as one of the most stable diagnostic categories applied to young children with psychiatric/developmental disorders. The stability over time of a diagnosis of ASD is theoretically interesting and important for various diagnostic and clinical reasons. We studied the diagnostic stability of ASD from childhood to early adulthood in the Faroe Islands: a total school age population sample (8-17-year-olds) was screened and diagnostically assessed for AD in 2002 and 2009.

Can psychopathology at age 7 be predicted from clinical observation at one year? Evidence from the ALSPAC cohort.

One of the challenges of developmental psychopathology is to determine whether identifiable pathways to developmental disorders exist in the first months or years of life. Early identification of such disorders poses a similar challenge for clinical services. Using data from a large contemporary birth cohort, we examined whether psychopathology at age seven can be predicted from clinician observation at one year.

Somatic problems and self-injurious behaviour 18 years after teenage-onset anorexia nervosa.

The aim of this study was to study long-term outcome of physical health and self-injurious behaviour (SIB) in anorexia nervosa (AN). Fifty-one adolescent-onset AN cases, originally recruited after community screening, and 51 matched controls (COMP) were interviewed regarding somatic problems and SIB and physically examined 18 years after AN onset, at mean age 32 years. Six individuals had an eating disorder (ED).

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism.

The sociocommunicative deficit subgroup in anorexia nervosa: autism spectrum disorders and neurocognition in a community-based, longitudinal study.

Background: A subgroup of persons with anorexia nervosa (AN) have been proposed to have sociocommunicative problems corresponding to autism spectrum disorders [ASDs, i.e. DSM-IV pervasive developmental disorders (PDDs): autistic disorder, Asperger's disorder, PDD not otherwise specified (NOS)].

Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.

Background: Autism spectrum disorders (ASD) are a group of severe childhood neurodevelopmental disorders with still unknown etiology. One of the most frequently reported associations is the presence of recurrent de novo or inherited microdeletions and microduplications on chromosome 16p11.2.

Aspects of quality of life in adults diagnosed with autism in childhood: a population-based study.

The present study is a long-term prospective follow-up study of a population-based cohort of 120 individuals diagnosed with autism in childhood, followed into late adolescence/early adulthood. Specific aims of the study were to attempt to measure and study social aspects/quality of life in those 108 individuals with autism alive and available for study at the time of follow-up (13-22 years after original diagnosis). A newly constructed scale for rating 'autism-friendly environment'/quality of life was used alongside a structured parent/carer interview assessing current occupation, educational history, services provided, accommodation type, and recreational activities.

Attention, executive functions, and mentalizing in anorexia nervosa eighteen years after onset of eating disorder.

Objective: Prospective study of attention, executive functions, and mentalizing abilities in a representative sample of teenage-onset anorexia nervosa (AN).

Method: A total of 51 AN cases recruited after community screening were contrasted with 51 matched comparison cases 18 years after AN onset. Neuropsychological tests had been done at 21, 24, and 32 years (18 years after AN onset).

Mortality in autism: a prospective longitudinal community-based study.

The purposes of the present study were to establish the mortality rate in a representative group of individuals (n = 120) born in the years 1962-1984, diagnosed with autism/atypical autism in childhood and followed up at young adult age (>or=18 years of age), and examine the risk factors and causes of death. The study group, which constituted a total population sample of children with these diagnoses, were followed up in Swedish registers. Nine (7.

Reproduction and offspring status 18 years after teenage-onset anorexia nervosa--a controlled community-based study.

Objective: To study reproduction in a representative group of anorexia nervosa (AN) cases.

Method: Fifty-one adolescent-onset AN cases (48 women; three men), originally recruited after community screening, and 51 matched comparison cases (COMP) were interviewed 18 years after AN onset at a mean age of 32 years, regarding pregnancies and early development of the children.

Results: The results of the 48 AN and 48 COMP group women are reported in the present study.

Adolescent-onset anorexia nervosa: 18-year outcome.

Background: The long-term outcome of anorexia nervosa is insufficiently researched.

Aims: To study prospectively the long-term outcome and prognostic factors in a representative sample of people with teenage-onset anorexia nervosa.

Method: Fifty-one people with anorexia nervosa, recruited by community screening and with a mean age at onset of 14 years were compared with 51 matched comparison individuals at a mean age of 32 years (18 years after disorder onset).

An investigation of ribosomal protein L10 gene in autism spectrum disorders.

Background: Autism spectrum disorders (ASD) are severe neurodevelopmental disorders with the male:female ratio of 4:1, implying the contribution of X chromosome genetic factors to the susceptibility of ASD. The ribosomal protein L10 (RPL10) gene, located on chromosome Xq28, codes for a key protein in assembling large ribosomal subunit and protein synthesis. Two non-synonymous mutations of RPL10, L206M and H213Q, were identified in four boys with ASD.

Analysis of X chromosome inactivation in autism spectrum disorders.

Autism spectrum disorders (ASD) are complex genetic disorders more frequently observed in males. Skewed X chromosome inactivation (XCI) is observed in heterozygous females carrying gene mutations involved in several X-linked syndromes. In this study, we aimed to estimate the role of X-linked genes in ASD susceptibility by ascertaining the XCI pattern in a sample of 543 informative mothers of children with ASD and in a sample of 163 affected girls.

Autism in adults: symptom patterns and early childhood predictors. Use of the DISCO in a community sample followed from childhood.

Background: Few studies have looked at the very long-term outcome of individuals with autism who were diagnosed in childhood.

Methods: A longitudinal, prospective, community-based follow-up study of adults who had received the diagnosis of autism (classic and atypical) in childhood (n = 105) was conducted. A structured interview (the Diagnostic Interview for Social and COmmunication disorders--the DISCO) was used in order to evaluate symptoms and symptom patterns 13-22 years after original diagnosis.

Brief report: Decreased bone mineral density as a long-term complication of teenage-onset anorexia nervosa.

Objective: To follow up bone mineral density (BMD) 4 years after decreased BMD was diagnosed in adult individuals with teenage-onset anorexia nervosa (AN).

Method: In a previous study BMD was assessed in 39 individuals (36 women, 3 men) 11 years after AN onset. Decreased BMD occurred in a minority.

Abnormal melatonin synthesis in autism spectrum disorders.

Melatonin is produced in the dark by the pineal gland and is a key regulator of circadian and seasonal rhythms. A low melatonin level has been reported in individuals with autism spectrum disorders (ASD), but the underlying cause of this deficit was unknown. The ASMT gene, encoding the last enzyme of melatonin synthesis, is located on the pseudo-autosomal region 1 of the sex chromosomes, deleted in several individuals with ASD.