Eva Kočovská

Vitamin D and autism: Clinical review

BACKGROUND Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with multiple genetic and environmental risk factors. The interplay between genetic and environmental factors has become the subject of intensified research in the last several years. Vitamin D deficiency has recently been proposed as a possible environmental risk factor for ASD. OBJECTIVE The aim of the current paper is to systematically review the research regarding the possible connection between ASD and vitamin D, and to provide a narrative review of the literature regarding the role of vitamin D in various biological processes in order to generate hypotheses for future research. RESULTS Systematic data obtained by different research groups provide some, albeit very limited, support for the possible role of vitamin D deficiency in the pathogenesis of ASD. There are two main areas of involvement of vitamin D in the human body that could potentially have direct impact on the development of ASD: (1) the brain (its homeostasis, immune system and neurodevelopment) and (2) gene regulation. CONCLUSION Vitamin D deficiency--either during pregnancy or early childhood--may be an environmental trigger for ASD in individuals genetically predisposed for the broad phenotype of autism. On the basis of the results of the present review, we argue for the recognition of this possibly important role of vitamin D in ASD, and for urgent research in the field.

Neurodevelopmental problems in maltreated children referred with indiscriminate friendliness

We aimed to explore the extent of neurodevelopmental difficulties in severely maltreated adopted children. We recruited 34 adopted children, referred with symptoms of indiscriminate friendliness and a history of severe maltreatment in their early childhood and 32 typically developing comparison children without such a history, living in biological families. All 66 children, aged 5-12 years, underwent a detailed neuropsychiatric assessment. The overwhelming majority of the adopted/indiscriminately friendly group had a range of psychiatric diagnoses, including Attention Deficit Hyperactivity Disorder (ADHD), Post-Traumatic Stress Disorder (PTSD) and Reactive Attachment Disorder (RAD) and one third exhibited the disorganised pattern of attachment. The mean IQ was 15 points lower than the comparison group and the majority of the adopted group had suspected language disorder and/or delay. Our findings show that school-aged adopted children with a history of severe maltreatment can have very complex and sometimes disabling neuropsychiatric problems.

The Rising Prevalence of Autism: A Prospective Longitudinal Study in the Faroe Islands

We have followed up a 2002 population study of autism prevalence in 15–24-year olds in the Faroe Islands. The rate of ASD grew significantly from 0.56% in 2002 to 0.94% in 2009. Although these results are within the range of typical findings from other studies, there were some interesting details. There were—in addition to 43 originally diagnosed cases in 2002—24 newly discovered cases in 2009 and nearly half of them were females. It is possible that unfamiliarity with the clinical presentation of autism in females have played a significant role in this context. There was diagnostic stability for the overall category of ASD over time in the group diagnosed in childhood (7—16) years, but considerable variability as regards diagnostic sub-groupings.

Vitamin-D Deficiency As a Potential Environmental Risk Factor in Multiple Sclerosis, Schizophrenia, and Autism

In this short review, we want to summarize the current findings on the role of vitamin-D in multiple sclerosis (MS), schizophrenia, and autism. Many studies have highlighted hypovitaminosis-D as a potential environmental risk factor for a variety of conditions such as MS, asthma, cardiovascular disease, and, more recently, psychiatric diseases. However, whether hypovitaminosis-D is a potential causative factor for the development or activity in these conditions or whether hypovitaminosis-D may be due to increased vitamin-D consumption by an activated immune system (reverse causation) is the focus of intense research. Here, we will discuss current evidence exploring the role of vitamin-D in MS, schizophrenia, and autism and its impact on adaptive and innate immunity, antimicrobial defense, the microbiome, neuroinflammation, behavior, and neurogenesis. More work is needed to gain insight into its role in the underlying pathophysiology of these conditions as it may offer attractive means of intervention and prevention.

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. This paper compares both independent clinical diagnosis and Diagnostic Interview for Social and Communication Disorders (DISCO) algorithm diagnosis at two time points, separated by seven years. The stability of clinical ASD diagnosis was perfect for AD, good for “atypical autism”/PDD-NOS, and less than perfect for Asperger syndrome (AS). Stability of the DISCO algorithm subcategory diagnoses was more variable but still good for AD. Both systems showed excellent stability over the seven-year period for “any ASD” diagnosis, although a number of clear cases had been missed at the original screening in 2002. The findings support the notion that subcategories of ASD should be collapsed into one overarching diagnostic entity with subgrouping achieved on other “non-autism” variables, such as IQ and language levels and overall adaptive functioning.

Cortisol secretion in children with symptoms of reactive attachment disorder

Maltreated children with reactive attachment disorder (RAD) have severe problems with social relationships and affect regulation. An association between early maltreatment and changes in the daily rhythm of cortisol secretion has already been reported for maltreated toddlers. We sought to find out whether such changes were apparent in school-age children with symptoms of RAD, who had experienced early maltreatment but were currently adopted in well-functioning families. We recruited 66 children: 34 adopted children, aged 5-12 years, with an early history of maltreatment and with social difficulties such as indiscriminate friendliness; and 32 age- and sex-matched comparison children with no history of maltreatment or social difficulties. Daily rhythms of cortisol production were determined from saliva samples collected over 2 days. The adopted group had significantly lower absolute levels of cortisol compared to the control group, but a typical profile of cortisol secretion. There was no association between cortisol secretion and symptom scores for psychopathology.

Sleep disturbance in adopted children with a history of maltreatment

This study aimed to investigate whether children with a history of maltreatment and current behaviour problems demonstrate greater sleep disruption than controls; and also whether sleep disturbances are associated with these behavioural problems using standardised carer report measures. Sixty-three participants were assessed using the Children’s Sleep Habits Questionnaire (CSHQ) (Owens, Spirito and McGuinn, 2000) and the Strengths and Difficulties Questionnaire (SDQ) (Goodman, et al., 2003). Thirty-four participants aged 5–12 years were recruited via Adoption UK – Scotland. Inclusion criteria included a history of maltreatment (confirmed from social work documents) with associated social/behavioural problems. Twenty-nine controls with no psychiatric or maltreatment history, also aged 5–12 years, were recruited from two general practices. Mean CSHQ total sleep difficulty scores were significantly higher in maltreated children than in controls (48.9 vs 23.6, P < 0.001). Rates of clinically significant sleep problems (total sleep score>41) were also higher in the maltreatment group at 50% compared to 12% in controls (P = 0.002). There was a significant association between high scores on the CSHQ and the SDQ (P < 0.000). Overall, this study suggests that behaviourally disturbed children with a history of maltreatment experience significant sleep disruption, which is in turn associated with their behavioural disturbance. This has clear implications for both clinical assessment and intervention with this vulnerable group and is worthy of further research.

The role of cholesterol metabolism and various steroid abnormalities in autism spectrum disorders: A hypothesis paper

Based on evidence from the relevant research literature, we present a hypothesis that there may be a link between cholesterol, vitamin D, and steroid hormones which subsequently impacts on the development of at least some of the “autisms” [Coleman & Gillberg]. Our hypothesis, driven by the peer reviewed literature, posits that there may be links between cholesterol metabolism, which we will refer to as “steroid metabolism” and findings of steroid abnormalities of various kinds (cortisol, testosterone, estrogens, progesterone, vitamin D) in autism spectrum disorder (ASD). Further research investigating these potential links is warranted to further our understanding of the biological mechanisms underlying ASD. Autism Res 2017.