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Introduction The broader autism phenotype (BAP) primarily comprises socio-communicative features that should be observable in the course of ordinary social interactions. The International Molecular Study of Autism Consortium (IMGSAC) developed [...], A 20 item observational measure of social functioning, the Impression of Interviewee rating scale, is one of three measures devised to assess the broader autism phenotype. The sample studied included families containing at least two individuals with autism spectrum disorder; observations were undertaken by the researcher who interviewed the subject. An exploratory factor analysis suggested a single factor was most appropriate (Cronbach's [alpha] of 0.78). There was a modest but significant retest correlation of 0.42. Correlations between live ratings and blind consensus ratings of vignettes were high (0.93). Correlations with the interview measures were moderate but statistically significant. In conclusion, the observational scale provides a promising start but further work is required before general use can be recommended. Keywords Broader autism phenotype * Observer rating * Test-retest * Factor analysis * Social functioning

This study compared mortality among Danish citizens with autism spectrum disorders (ASDs) with that of the general population. A clinical cohort of 341 Danish individuals with variants of ASD, previously followed over the period 1960-93, now on average 43 years of age, were updated with respect to mortality and causes of death. Standardized mortality ratios (SMRs) were calculated for various times after diagnosis. In all, 26 persons with ASD had died, whereas the expected number of deaths was 13.5. Thus the mortality risk among those with ASD was nearly twice that of the general population. The SMR was particularly high in females. The excess mortality risk has remained unchanged since our first study in 1993. Eight of the 26 deaths were associated with epilepsy and four died from epilepsy. Future staff education should focus on better managing of the complex relationships between ASD and physical illness to prevent avoidable deaths. [ABSTRACT FROM AUTHOR]

This register study compared the rates and types of autoimmune disease in the parents of 111 patients (82 males, 29 females; mean age at diagnosis 5y 5mo [SD 2y 6mo]) with infantile autism (IA) with a matched control group of parents of 330 children from the general population. All parents were screened through the nationwide Danish National Hospital Register. We inquired about 35 autoimmune diseases during an observation period of 27 years. At follow-up the case and control mothers were identical in age (65y 7mo [SDs 9y 7mo and 9y respectively]). For case and control fathers the figures were 70 years 2 months (SD 10y 2mo) and 69 years 1 month (SD 10y 1mo) respectively. A similar proportion of case and control mothers had a diagnosis of any autoimmune disease: 10.8% versus 9.1%. For case fathers the proportion was 8.6% versus 4.6%. Two autoimmune conditions were associated with IA: ulcerative colitis in mothers (p=0.05) and type 1 diabetes in fathers (p=0.02). Additional studies are required to determine whether there is a true association between a parental history of autoimmune disease and pervasive developmental disorder in their offspring. [ABSTRACT FROM AUTHOR]

Background: Empirical evidence for the validity of the diagnostic label disintegrative psychosis is sparse. The issue of whether it is a separate form of infantile autism is unresolved.Method: To investigate the validity of disintegrative psychosis as defined in ICD-9, the natural history of 13 cases were compared with 39 matched cases of infantile autism on various outcome variables. Average follow-up time was 22 (11-33) years.Results: Statistically significant differences were found between the two groups in terms of number of admissions to non-psychiatric departments, occurrence of comorbid epilepsy, social style, and score on the Global Assessment of Functioning scale. In most other areas assessed there was a tendency, although statistically insignificant, towards a better outcome in the infantile autism comparison group.Conclusions: Our findings provide some support for maintaining a diagnostic category of disintegrative psychosis as distinct from infantile autism. [ABSTRACT FROM AUTHOR]

Purpose: The objective of this study was to compare the prevalence and types of eye disorders in a clinical sample of 118 adult people diagnosed with infantile autism (IA) during childhood with 336 sex- and age-matched controls from the general population., Methods: All participants were screened through the nationwide Danish National Hospital Register. The average observation time of both groups was 37.2 years, and mean age was 49.6 years, by the end of the observation period., Results: The overall prevalence of any eye disorder was 15.3% (18/118) in cases with IA, compared to 10.1% (34/336) in controls (p = 0.18). Refraction and accommodation disorders were significantly associated with IA: 7.6% (9/118) vs 1.2% (4/336) (p = 0.001). The rate of eye disorder was particularly high (24.5%) in those with a co-occurring profound or severe learning disability (IQ < 50)., Conclusions: Refraction and accommodation disorders were more frequently present in Danish adults with IA, particularly when a profound or severe learning disability was co-present. The increased prevalence of eye disorders in participants with a severe or profound learning disability, and the fact that people with IA do not necessarily realize the presence of a vision deficit, necessitates increased ophthalmological attention.

Objective: It has been suggested that high levels of prenatal testosterone exposure are implied in the etiology of male preponderance disorders such as autism spectrum disorder and ADHD. Within this scope, we studied the sex ratio (proportion of males) in siblings of individuals diagnosed with ADHD in childhood and adolescence., Method: We did a nationwide, register-based cohort study of the sex ratio in siblings of the 16,381 patients in Denmark diagnosed with ADHD at age 17 years and younger and registered in the nationwide Danish Psychiatric Central Register between January 1, 1994 and May 28, 2013., Results: Among the 33,151 siblings, 17,041 were males and 16,110 females. This yields a sex ratio of 0.514, which is not statistically significant different from the Danish live birth sex ratio of 0.513 during the relevant years (p = .70)., Conclusion: These findings provide no support for the hypothesis that the sex ratio is elevated among the siblings of people with ADHD., (© The Author(s) 2014.)

Background: Research dealing with adult people with autism spectrum disorders (ASD) noticeably lags behind studies of children and young individuals with ASD., Aims: The objective of this study was to compare the prevalence and types of diseases of the circulatory system in a clinical sample of 118 adult people diagnosed with infantile autism (IA) as children with 336 sex and age matched controls from the general population., Methods and Procedures: All participants were screened through the nationwide Danish National Hospital Register. The average observation time of both groups was 37.2 years, and mean age at follow-up was 49.6 years., Outcomes and Results: Of the 118 people with IA, 11 (9.3%) were registered with at least one disease of the circulatory system against 54 (16.1%) in the comparison group (p=0.09; OR=0.54; 95% CI 0.3-1.2). Ischemic heart diseases occurred significantly more frequently among people in the comparison group (p=0.02)., Conclusions and Implications: It is argued that diseases of the circulatory system may be underdiagnosed in people with IA because of the difficulties they face with respect to identifying and communicating symptoms of ill health. Bearing in mind that cardiovascular disease is the primary cause of death in most developed countries, it is suggested that to prevent disease and manage health conditions, health monitoring is essential in adult people with IA., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

Clinical genetic studies confirm the broader autism phenotype (BAP) in some relatives of individuals with autism, but there are few standardized assessment measures. We developed three BAP measures (informant interview, self-report interview, and impression of interviewee observational scale) and describe the development strategy and findings from the interviews. International Molecular Genetic Study of Autism Consortium data were collected from families containing at least two individuals with autism. Comparison of the informant and self-report interviews was restricted to samples in which the interviews were undertaken by different researchers from that site (251 UK informants, 119 from the Netherlands). Researchers produced vignettes that were rated blind by others. Retest reliability was assessed in 45 participants. Agreement between live scoring and vignette ratings was very high. Retest stability for the interviews was high. Factor analysis indicated a first factor comprising social-communication items and rigidity (but not other repetitive domain items), and a second factor comprised mainly of reading and spelling impairments. Whole scale Cronbach's alphas were high for both interviews. The correlation between interviews for factor 1 was moderate (adult items 0.50; childhood items 0.43); Kappa values for between-interview agreement on individual items were mainly low. The correlations between individual items and total score were moderate. The inclusion of several factor 2 items lowered the overall Cronbach's alpha for the total set. Both interview measures showed good reliability and substantial stability over time, but the findings were better for factor 1 than factor 2. We recommend factor 1 scores be used for characterising the BAP., (© 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.)

In the extreme male brain theory of autism sex steroid hormones are hypothesized to influence brain development and to mediate sex differences in developmental psychopathology. Within this scope we examined the sex ratio (proportion of males) in siblings of individuals diagnosed with autism spectrum disorders (ASD). We did a nationwide, register based cohort study of the sex ratio in 17,380 siblings of the 10,297 patients diagnosed with ASD at age 17 years and younger and registered in the nationwide Danish Psychiatric Central Register between 1994 and 2012. Among the 17,380 siblings 8,828 were males and 8,552 females. This yields a sex ratio of 0.508, which is not different from the Danish live birth sex ratio of 0.513 during the relevant years (P = 0.18). Overall, our findings provide no support for the hypothesis that there are relatively more males among the siblings of people with ASD. Accordingly, our results do not give support to the extreme male brain theory of autism.

We performed a nationwide, register-based retrospective follow-up study of epilepsy in all people who were born between January 1, 1980 and June 29, 2006 and registered in the Danish Psychiatric Central Register with Asperger's syndrome on February 7, 2011. All 4,180 identified cases with AS (3,431 males and 749 females) were screened through the nationwide Danish National Hospital Register (DNHR) with respect to epilepsy. Mean age at follow-up was 18.1 years (range 4-31 years). Of the 4,180 individuals with AS, 164 (3.9%) were registered with at least one epilepsy diagnosis in the DNHR, which is significantly increased (p < 0.0001) relative to the same age group in the general population, where an estimate is about 2.0%.

The purpose of this study is to compare the prevalence and types of diseases (International classification of mental and behavioural disorders, 10th edition codes K20-K93) relating to the gastrointestinal tract in a clinical sample of 89 individuals diagnosed as children with atypical autism/pervasive developmental disorder not otherwise specified with 258 controls from the general population. All participants were screened through the nationwide Danish National Hospital Register. The average observation time was 32.9 years, and mean age at the end of the observation period was 48.5 years. Among the 89 cases with atypical autism, a total of 22 (24.7%) were registered with at least one diagnosis of any disease of the gastrointestinal tract, against 47 of 258 (18.2%) in the comparison group (p = 0.22; odds ratio = 1.5; 95% confidence interval = 0.8-2.6). Without reaching statistical significance, the rate of diseases of the gastrointestinal tract was particularly high (odds ratio = 1.2) in those with intelligence quotient < 70. Overall, people with atypical autism had about the same frequency of gastric, intestinal and hepatic diseases as had controls.

We compared the prevalence and types of fractures in a clinical sample of 118 individuals diagnosed as children with infantile autism (IA) with 336 matched controls from the general population. All participants were screened through the nationwide Danish National Hospital Register. The average observation time was 30.3 years (range 27.3-30.4 years), and mean age at follow-up was 42.7 years (range 27.3-57.3 years). Of the 118 individuals with IA, 14 (11.9%) were registered with at least one fracture diagnosis against 83 (24.7%) in the comparison group (p = 0.004; OR = 0.41; 95%CI 0.22-0.76), but the nature of their fractures seems somewhat different. Epilepsy was a risk factor, but only in the comparison group. Our results lend no support to the notion that fracture is a common comorbid condition in a population of people diagnosed with IA as children.

Objective: To compare the prevalence and types of epilepsy and other central nervous system (CNS) diseases in a clinical sample of 118 individuals diagnosed as children with infantile autism (IA) with 336 matched controls from the general population., Methods: All participants were screened through the nationwide Danish National Hospital Register (DNHR). The average observation time was 30.3years (range 27-30years), and mean age at follow-up was 42.7years (range 27-57years)., Results: Of the 118 individuals with IA, 29 (24.6%) were registered with at least one epilepsy diagnosis against 5 (1.5%) in the comparison group (p<0.0001; OR=21.6; 95% CI 8.1-57.3). Other CNS diseases occurred with low frequency in both groups and only cerebral palsy, unspecified (p=0.02) was significantly more frequent among participants with a history of IA., Conclusions: Our study lends further support to the notion that epilepsy, but not other CNS diseases, is a common comorbid condition in IA. Low intelligence, but not gender, was a risk factor for epilepsy in IA., (Copyright © 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)

There is an increased but variable risk of epilepsy in autism spectrum disorders. The objective of this study is to compare the prevalence and types of epilepsy and other central nervous system (CNS) diseases in a clinical sample of 89 individuals diagnosed as children with atypical autism (AA) with 258 matched controls from the general population. Diagnoses were based on data from the nationwide Danish National Hospital Register. The average observation time was 32.9 years, and mean age at follow-up was 48.5 years. Of the 89 individuals with AA, 20 (22.5%) were registered with at least one epilepsy diagnosis against 11 (4.3%) in the comparison group (P < 0.0001; OR 6.5; 95% CI 3.0-14.2). Other CNS diseases occurred with low frequency in both groups, and no single CNS disease (except epilepsy) was significantly more frequent among patients with AA. Low intelligence was a risk factor for epilepsy in AA.

Aim: To study the sex ratio (proportion of males) in siblings of individuals diagnosed with autism spectrum disorders (ASDs) as children., Method: In the current study, we extended previous studies dealing with the androgen theory of autism and examined sex ratios in the siblings of 326 individuals with ASD (245 males, 81 females) who had been consecutively assessed at two Danish university clinics of child psychiatry during the 25-year period from 1960 to 1985., Results: Among the 513 siblings, 300 were males and 213 females. This yields a sex ratio of 0.585, which is significantly higher than the Danish live-birth sex ratio over the same period (0.514, p=0.001). The sibling sex ratio was not associated with the IQ in the autistic probands., Interpretation: Our findings suggest a potential indirect confirmation of the androgen theory of autism.

Aim: The objective of the current study was to compare the prevalence of three testosterone-related cancer diseases in the mothers of 111 individuals diagnosed as children with infantile autism (IA) with a matched comparison group of mothers of 330 children from the general population., Method: All mothers were screened through the nationwide Danish National Hospital Register. We inquired about breast-, uterine-, and ovarian cancer diseases during an observation period of 27 years., Results: At follow up a similar proportion of case and control mothers had a diagnosis of any cancer disease: 6.3% vs 8.5%. In addition, no single cancer disease was significantly more frequent among mothers of children with IA., Conclusion: Our study provides no support for an (eventually androgen-mediated) increased rate of cancer in mothers of persons with IA.

In order to study the broader phenotype of infantile autism (IA) we compared the rates and types of epilepsy and other neurological diseases in the parents of 111 consecutively admitted patients with IA with a matched control group of parents of 330 children from the general population. All participants were screened through the nationwide Danish National Hospital Register (DNHR). We inquired about epilepsy and other neurological diseases during an observation period of 27 years. A similar proportion of case- and control mothers had a diagnosis of any neurological disease, 9.9% vs 10.6%. For case fathers the proportion was 5.7% vs 9.7%. No single neurological disease was significantly more frequent among parents of persons with IA. Our study lent support to the notion that epilepsy and other neurological diseases are not part of the broader IA phenotype.

Background: The rates and types of psychiatric disorders were studied in the parents of individuals with infantile autism (IA)., Sampling and Methods: To estimate the prevalence and types of psychiatric disorders, the parents of 115 individuals with IA and the parents of 330 controls from the general population were screened through the nationwide Danish Psychiatric Central Register covering a period of 33 years. The IA individuals had been seen as in-patients at two university clinics of child psychiatry during a 25-year period and had been referred from the entire country of Denmark., Results: Psychiatric disorders were found in 15.7% of mothers with autistic children, which was significantly higher than the 8.2% found in the control group. The only diagnostic category in which a statistically significant overrepresentation could be found was that of personality disorder. A personality disorder diagnosis was found in 7.8% of mothers with autistic children in comparison to 2.1% of mothers in the control group., Conclusion: The findings so far suggest that in future studies it is important to pay attention to issues such as relatives examined, control groups and methods of data collection.

Genetic studies have provided evidence for an autism susceptibility locus (AUTS1) on chromosome 7q. Screening for mutations in six genes mapping to 7q, CUTL1, SRPK2, SYPL, LAMB1, NRCAM and PTPRZ1 in 48 unrelated individuals with autism led to the identification of several new coding variants in the genes CUTL1, LAMB1 and PTPRZ1. Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect for this variant. Association was also detected for several polymorphisms in the promoter and untranslated region of NRCAM, suggesting that alterations in expression of this gene may be linked to autism susceptibility.

Introduction: Psychiatric illness and suicide attempts are important risk factors for suicide in young people. To what extent suicidal behaviour in childhood predicts suicidal behaviour and suicide later in life is not known, and studies concerning suicidal behaviour and psychopathology in children are limited. The objective of the study was to describe suicidal behaviour in children referred to child psychiatric assessment concerning the frequency and characteristics of the suicidal behaviour and the psychiatric diagnoses of the children., Material and Methods: Children under the age of 15 from the County of Copenhagen referred to child psychiatric ward because of suicidal behaviour. The period studied was January 1st 1998 to December 31st 2000. Data regarding the children were collected from a clinical database and medical records. Children seen at other wards by child psychiatric consultants have not been included in the descriptive part of the study., Results: The incidence of referred children corresponds to a rate of suicidal behaviour of 63.0 per 100,000. A total of 126 children were referred. 62 were patients in a child psychiatric ward. Among these, 97% were diagnosed as having psychiatric problems. Children with suicidal risk made out 6% of all referred children. The ratio of boys to girls was 53:73. Most of the girls were aged 13-14 and the boys 8-12. Seven boys suffered from psychoses and pervasive developmental disorders, the rest of the boys from attention deficit and hyperactivity disorders and mixed disorders of conduct and emotions. The oldest girls were suffering from personality disorders. Poisoning was common among the girls and more violent self-destructive acts characterized the suicidal behaviour of the boys., Discussion: Suicidal behaviour was associated with psychopathology in most children referred. Serious psychiatric disturbances as psychotic disorders were found in boys as young as seven years of age, and personality disorders were most common in the girls. Sex differences in suicidal behaviour known from studies of adolescents and adult people seem to be manifested early in childhood., Perspectives: Prospective studies are needed to clarify the association of psychopathology and suicidal behaviour in childhood and later suicidal behaviour and suicide.

Morphometry, the measurement of forms, is an ancient practice. Recently, evidence has grown to support the notion that aberrant neurodevelopment may play a role in the pathophysiology of autism. Is the body, like the brain, affected by abnormal development in these patients? The aim of this study was to evaluate body mass index (BMI) of children with infantile autism, by comparing the BMI of 117 children with infantile autism with the corresponding BMI percentiles in an age- and sex-matched reference population. The BMI distribution of the male, but not female, children with infantile autism was significantly lower than that of the age-matched reference population. There was no evidence that BMI was associated with intelligence or socioeconomic status among children with infantile autism.

Although disintegrative psychosis (DP) was first described in 1908, the validity of the syndrome has not yet been fully documented. To investigate the validity of DP as defined in ICD-9, 13 cases of DP were compared with 39 cases of infantile autism with reference to lifetime parental psychopathology, neuroradiological findings and genetic abnormalities. The groups were matched for gender, age, intellectual level and social class. Apart from a significantly higher rate of electroencephalogram abnormalities in the disintegrative group there was very little in the neurobiological background to support a clear distinction between DP and infantile autism.

In order to study the validity of disintegrative psychosis (DP), the authors compared 13 patients given this diagnosis in childhood with a control group of 39 patients with infantile autism (IA) matched for sex, age, IQ and social class on measures of psychiatric morbidity. Almost the same proportion of the two groups had been admitted to a psychiatric hospital during a 22-year follow-up period. However, there was a slight tendency (statistically nonsignificant) for the DP group to utilize the psychiatric health care system more frequently than the IA group. They had more admissions and stayed longer in hospital than patients with IA suggesting that they had more psychiatric symptoms than the IA group. The original IA diagnoses were confirmed fairly consistently during the follow-up period, while the DP group was given more heterogenous diagnoses. No diagnosis of schizophrenia was made in either group.

Recent findings have suggested that the simultaneous occurrence of neurofibromatosis and childhood psychosis might be more than a coincidence. In this study of 341 children with infantile autism and other types of childhood psychosis seen as inpatients in two university clinics of child psychiatry in a 25-year period, only one case (0.3%) of concomitant occurrence of the disorders was found, which is a frequency no higher than expected by chance.