The SNABB ADHD treatment scale-An easy-to-use scale on treatment monitoring in childhood ADHD: A pilot study.

Introduction: Information from parents and teachers are essential in the treatment monitoring of children with attention deficit hyperactivity disorder (ADHD). Rating scales are infrequently used in the treatment monitoring, and clinicians are signalling logistic barriers in the administration of rating scales in clinical settings. Here, we aimed to try out a new easy-to-use scale to facilitate information sharing between parents, teachers, and medical staff, in the treatment of childhood ADHD.

Intervention in autism based on Early Start Denver Model in a multiethnic immigrant setting-experiences of preschool staff involved in its implementation.

Background: Early interventions for young children with autism have been shown to enhance developmental outcomes. However, opportunities for targeted interventions in autism, both in care and preschool, are often lacking, particularly in immigrant communities. The early start denver model (ESDM) stands as one of the most well-established intervention models, including improvement in core developmental domains and reduction of maladaptive behaviours, also delivered in preschool settings.

"The package has been opened"- parents' perspective and social validity of an Early Start Denver Model intervention for young children with autism.

Introduction: This study aimed to capture experiences and perspectives of parents of children with autism participating in an intervention program based on the Early Start Denver Model (ESDM). Specifically, we wanted their views regarding feasibility, acceptability, and significance of the intervention program, i.e.

Avoidant/restrictive food intake disorder, other eating difficulties and compromised growth in 72 children: background and associated factors.

This is a study of avoidant/restrictive food intake disorder (ARFID), other feeding disorders, and background factors, including seventy-two children (thirty-one girls, forty-one boys, aged 4-178 months) referred to a secondary/tertiary feeding service for eating difficulties and/or compromised growth. An in-depth review of their medical records was performed. Diagnostic criteria for ARFID were met in 26% of cases.

A feasibility study of a new instrument for detection of autism signs in preschool settings. Psychometric properties of the joint attention observation schedule preschool (JA-OBS preschool).

Background: Identifying signs of autism is essential for enabling timely diagnosis and intervention. Children from multiethnic and socioeconomic disadvantaged settings are typically diagnosed with autism later than their general peers. This feasibility study explored the psychometric properties of a new instrument, Joint Attention Observation Schedule Preschool (JA-OBS Preschool), in children with suspected autism.

Feeding Problems Including Avoidant Restrictive Food Intake Disorder in Young Children With Autism Spectrum Disorder in a Multiethnic Population.

We examined feeding problems, including Avoidant Restrictive Food Intake Disorder (ARFID), in preschool children with Autism Spectrum Disorder (ASD). Data were collected from a prospective longitudinal study of 46 children with ASD in a multiethnic, low resource area in Gothenburg, Sweden. Feeding problems were found in 76% of the children with ASD, and in 28%, the criteria for ARFID were met.

A High Prevalence of Autism Spectrum Disorder in Preschool Children in an Immigrant, Multiethnic Population in Sweden: Challenges for Health Care.

This study examines the prevalence of autism spectrum disorder (ASD) in preschool children in an immigrant population. Possible risk factors for ASD and individual needs for the children and their families are described, as well as implications for health care. The estimated minimum prevalence for ASD in the area was 3.

Experiences Of Immigrant Parents In Sweden Participating In A Community Assessment And Intervention Program For Preschool Children With Autism.

Background: Barriers inherent in service systems for autism can hinder parents from getting help for their children, and this is probably especially true for immigrant parents. In order to provide accessible assessment and interventions for preschool children with autism, a multidisciplinary team was established in one district of a Swedish city, with a majority population of immigrants.

Aim: The aim of the present study was to gain knowledge of the parents' experiences of participating in the community assessment and intervention program.

[Organisation of health care for families with young children with autism in a multiethnic community in Gothenburg, Sweden].

Organisation of health care for families with young children with autism in a multiethnic community in Gothenburg, Sweden In a project in a multiethnic district in Gothenburg a local collaborative model with a multiprofessional team for families with young children with autism has been running for three years. The model allows assessments and intervention planning close to the family's local environment. The project has revealed that the time from identification of problems to assessment and intervention has been considerably shortened compared to the situation before the local collaborative model was started.

Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism.

Autism spectrum disorder (ASD) is a common neurodevelopmental condition characterized by marked genetic heterogeneity. Recent studies of rare structural and sequence variants have identified hundreds of loci involved in ASD, but our knowledge of the overall genetic architecture and the underlying pathophysiological mechanisms remains incomplete. Glycine receptors (GlyRs) are ligand-gated chloride channels that mediate inhibitory neurotransmission in the adult nervous system but exert an excitatory action in immature neurons.

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.

Individual common variants exert weak effects on the risk for autism spectrum disorders.

While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the risk.

A new screening programme for autism in a general population of Swedish toddlers.

The evidence from early intervention studies of autism has emphasised the need for early diagnosis. Insight into the early presentation of autism is crucial for early recognition, and routine screening can optimise the possibility for early diagnosis. General population screening was conducted for 2.

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 prevalence of autism spectrum disorders in toddlers: a population study of 2-year-old Swedish children.

Autism Spectrum Disorder (ASD) is more common than previously believed. ASD is increasingly diagnosed at very young ages. We report estimated ASD prevalence rates from a population study of 2-year-old children conducted in 2010 in Gothenburg, Sweden.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants.

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.

A genome-wide scan for common alleles affecting risk for autism.

Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8).

Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population.

Melatonin is a powerful antioxidant and a synchronizer of many physiological processes. Alteration of the melatonin pathway has been reported in circadian disorders, diabetes and autism spectrum disorders (ASD). However, very little is known about the genetic variability of melatonin receptors in humans.

Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls.

Background: The gene encoding carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase (NOS1AP) is located on chromosome 1q23.3, a candidate region for schizophrenia, autism spectrum disorders (ASD) and obsessive-compulsive disorder (OCD). Previous genetic and functional studies explored the role of NOS1AP in these psychiatric conditions, but only a limited number explored the sequence variability of NOS1AP.