Autism spectrum disorders: concurrent clinical disorders

Individuals with autism spectrum disorder are heterogeneous in clinical presentation, concurrent disorders, and developmental outcomes. This study characterized the clinical co-occurrences and potential subgroups in 160 children with autism spectrum disorders who presented to The Autism Center between 1999 and 2003. Medical and psychiatric co-occurrences included sleep disorders, epilepsy, food intolerance, gastrointestinal dysfunction, mood disorder, and aggressive and self-injurious behaviors. Sleep disorders were associated with gastrointestinal dysfunction (P < .05) and mood disorders (P < .01). Food intolerance was associated with gastrointestinal dysfunction (P = .001). Subjects with mood disorder tended to develop aggressive or self-injurious behaviors (P < .05). Developmental regression was not associated with increased co-occurrence of medical or psychiatric disorders. Medical co-occurrence did not present as a risk factor for psychiatric co-occurrence, and vice versa. These results showed a high prevalence of multiple medical and psychiatric co-occurrences. There may be common pathophysiologic mechanisms resulting in clinical subgroups of autism spectrum disorders. Recognition of the co-occurrence of concurrent disorders may provide insight into the therapeutic strategy.     

Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population

Background   An emerging literature on behavioural phenotypes has highlighted apparent associations between autism spectrum disorders (ASDs) or ASD-related phenomenology and a number of different genetically determined syndromes.
Method   A systematic review of the current literature regarding the association with ASD and ASD characteristics was conducted in the following syndrome groups: Fragile X, Rett, Tuberous Sclerosis Complex, Down, Angelman, CHARGE and Phenylketonuria. Specific consideration was given to the role of intellectual disability in assessing the association between ASD and these syndrome groups.
Results   The review highlights that while formal diagnostic assessments may indicate an association between ASD and specific syndrome groups, detailed investigation has revealed subtle but qualitative differences in the presentation of ASD-like phenomenology in particular syndrome groups. The degree of ID of the individual clearly has a role to play with regard to the development and presentation of ASD-like characteristics, and caution should be taken when assessing ASD symptomatology in genetically determined syndromes associated with severe ID. However, degree of ID cannot solely account for the heightened prevalence of ASD characteristics in some specific syndrome groups.
Conclusions   There is a need for caution in interpreting the significance of superficial similarities between ASD and the behavioural phenotypes of certain genetically determined syndromes. However, recognition of ASD-like characteristics (even where a true diagnosis of ASD may not be relevant) in individuals with genetic syndromes is crucial in ensuring that individuals receive appropriate behavioural management and educational placement. Further research in this field requires fine-grained investigation of behavioural phenomenology within individual syndrome groups.     

Autism spectrum disorders: update of evaluation and treatment

Autistic spectrum disorders are a group of neurodevelopmental conditions that are increasingly capturing the attention of clinicians and investigators. New insights from genetics and neuropathophysiology of autism will increasingly inform treatment. Presently, individualized treatment approaches typically include a mix of behavioral and, occasionally, pharmacotherapeutic strategies. Concerning the latter, exquisite sensitivity to medication is not uncommon in some children with autism.     

Autism spectrum disorders: Update of evaluation and treatment

Autistic spectrum disorders are a group of neuro-developmental conditions that are increasingly capturing the attention of clinicians and investigators. New insights from genetics and neuropathophysiology of autism will increasingly inform treatment. Presently, individualized treatment approaches typically include a mix of behavioral and, occasionally, pharmacotherapeutic strategies. Concerning the latter, exquisite sensitivity to medication is not uncommon in some children with autism.     

Autism spectrum disorders in institutionalized subjects

Childhood maltreatment is delicate to assess both in clinical work and in research. There is a need for assessment tools that can be easily administered in an ethical and non-intrusive way that meets requirements of conceptual validity for various types of maltreatment and is sensitive to levels of severity. This study explores the psychometric properties of the Swedish translation of one such tool—the Childhood Trauma Questionnaire—Short Form (CTQ-SF; Bernstein and Fink, 1998). The CTQ-SF was administered to seven samples (total n=659)—five clinical samples and two non-clinical student samples. The factor structure supports the construct validity of the global maltreatment scale, four of the five maltreatment subscales (emotional abuse, physical abuse, sexual abuse and emotional neglect) and the minimization/denial (MD) scale, but not the physical neglect (PN) subscale. All items are highly correlated with their respective subscale. The discriminant validity is satisfactory. Highly significant correlation with social desirability gives further support for the MD-scale and to the recommendation of how to apply it. Internal consistency of PN is acceptable and for all other scales satisfactory. Swedish norm groups tend to score lower than similar American norm groups on abuse scales but higher on the neglect scales. Percentiles for seven gender-specific norm groups are presented. The weaknesses of the PN-scale are discussed and new constructs are proposed. The Swedish version of the CTQ-SF has the same construct validity and internal consistency as the original, including less homogeneity of the PN scale.     

Autism spectrum disorders in Down syndrome: A review

While it had been claimed that the association of autism spectrum disorders (ASDs) and Down syndrome was uncommon there are now a substantial number of studies demonstrating that a subgroup of those with Down syndrome will also reach the diagnostic criteria for an ASD. This review examines published research on the prevalence of ASDs in Down syndrome. The manifestation of ASDs in the Down syndrome population is also examined with regard to published case studies and profiles on ASD screening and diagnostic instruments. Possible correlates of ASDs in Down syndrome including level of cognitive functioning, medical factors, gender, and family history are also reviewed. Issues regarding the diagnostic assessment of ASDs in Down syndrome and suggestions for future research are discussed.     

Autism spectrum disorders: Neuroimaging findings from systematic reviews

Autism Spectrum Disorders (ASD) are a cluster of neurodevelopmental conditions associated with core deficits in social communication, social interaction, and restricted and repetitive behaviours. Current evidence suggests a complex interaction between genetic and environmental factors that underlie the heterogeneity of neuroanatomy and clinical symptomatology of ASD across a spectrum. Although abnormalities in brain structure and function have been implicated in the neurodevelopmental trajectory of ASD, the search for definitive neuroimaging markers remains obscured by inconsistent or incompatible findings. Specifically, discrepancies between independent studies impede reliable identification of the nature and form of atypical alterations in grey-matter structural morphometry and intrinsic functional networks in ASD. This review aims to illustrate the heterogeneity in ASD neuroimaging literature by comparing systematic reviews and meta-analyses of neuroimaging investigations in ASD over the last several decades, with particular emphasis on structural morphometry, structural connectivity and resting-state intrinsic connectivity techniques. Given the unique challenges in ASD research, standardized methodologies to validate potential neuroimaging markers will be an important step towards advancing clinical and research methods to investigate complex aetiological mechanisms and risk factors underlying ASD.     

Autism spectrum and attention-deficit disorders in girls. Some neuropsychological aspects

This study compared the neuropsychological test profiles of non-mentally retarded girls and boys consecutively referred to a neuropsychiatric clinic and those of contrast cases of girls from mainstream classrooms of one G?teborg school district. To avoid overreliance on the male prototype with regard to diagnostic criteria the clinical group comprised a mixed sample of girls and boys without diagnostic subgrouping. Clinic girls had a lower IQ than comparison girls. Girls were more impaired than the boys with respect to executive functions and scored less well on theory of mind tasks. Previous studies have shown girls with autism and mental retardation to be more severely affected than boys both with regard to level of intellectual functioning and overall measures of brain dysfunction. The present study indicates that clinic girls with a variety of neuropsychiatric disorders at higher levels of intellectual functioning (some of which met diagnostic criteria for autism spectrum disorder) may also be more severely affected than boys with corresponding types of "surface" problems.     

Autism spectrum disorders associated with chromosomal abnormalities

Autism spectrum disorders (ASDs) constitute a class of severe neurodevelopmental conditions with complex multifactorial and heterogeneous etiology. Despite high estimates of heritability, genetic causes of ASDs remain elusive, due to a high degree of genetic and phenotypic heterogeneity. So far, several “monogenic” forms of autism have been identified, including Rett syndrome, Fragile-X syndrome, and Tuberous Sclerosis, accounting only for a small part of ASDs cases. Further evidences for rare mutations in the etiology of ASDs come from cytogenetic studies. Traditional cytogenetic approaches have highlighted the high frequency of large chromosomal abnormalities (about 7% of patients) and, more recently, the advent of high-resolution oligonucleotide microarrays has made possible to screen genome-wide for structural changes. In this review, we describe less known chromosomal abnormalities reported in association with ASDs and provide some clues to neuropediatricians for a more specific diagnostic evaluation of patients with ASDs.     

Autism spectrum disorder and personality disorders: Comorbidity and differential diagnosis

BACKGROUNDDifferential diagnosis, comorbidities and overlaps with other psychiatric disorders are common among adults with autism spectrum disorder (ASD), but clinical assessments often omit screening for personality disorders (PD), which are especially common in individuals with high-functioning ASD where there is less need for support.AIMTo summarize the research findings on PD in adults with ASD and without intellectual disability, focusing on comorbidity and differential diagnosis. METHODSPubMed searches were performed using the key words “Asperger’s Syndrome”, “Autism”, “Personality”, “Personality disorder” and “comorbidity” in order to identify relevant articles published in English. Grey literature was identified through searching Google Scholar. The literature reviews and reference sections of selected papers were also examined for additional potential studies. The search was restricted to studies published up to April 2020. This review is based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses method. RESULTSThe search found 22 studies carried out on ASD adults without intellectual disability that met the inclusion criteria: 16 evaluated personality profiles or PD in ASD (comorbidity), five compared ASD and PD (differential diagnosis) and one performed both tasks. There were significant differences in the methodological approaches, including the ASD diagnostic instruments and personality measures. Cluster A and cluster C PD are the most frequent co-occurring PD, but overlapping features should be considered. Data on differential diagnosis were only found with cluster A and cluster B PD.CONCLUSIONASD in high-functioning adults is associated with a distinct personality profile even if variability exists. Further studies are needed to explore the complex relationship between ASD and PD.     

Prevalence of autism spectrum disorders in toddlers receiving early intervention services

The prevalence of autism spectrum disorders (ASD) continues to be a source of debate among researchers and clinicians. Prevalence studies are of the utmost importance in order to obtain an accurate picture of the true prevalence rate of ASD and because these rates continue to be on the rise. To date, studies examining prevalence rates have utilized community or clinical populations. Therefore, the aim of the current study was to utilize a sample of toddlers at risk for or currently diagnosed with a developmental delay (N = 2027) to determine the prevalence rate in this young population. As anticipated, the prevalence rates of ASD were much higher in this at risk sample of toddlers compared to rates reported in community or clinical samples. In addition, gender differences in prevalence rates emerged. However, the differences between these rates were not as pronounced as in other previously studied populations. These results underscore the necessity to routinely assess toddlers for the presence of symptoms of ASD who are already receiving early intervention services for other developmental delays.     

Comorbid psychiatric disorders in Arab children with Autism spectrum disorders

The objective of our study is to estimate the prevalence of comorbid psychiatric disorders in a sample of children with autism spectrum disorders (ASD) recruited from three Arab countries. We also examine the relationship between comorbidity and children's cognitive functioning and gender. Children who received a diagnosis of ASD (n = 60) from a child psychiatric outpatient clinic in Mansoura (Egypt), Al-Ahsa (Saudi Arabia) and Amman (Jordan) were included in this study. Comorbid diagnoses were established with a clinical interview and a semi-structured clinical interview for children and adolescents (SCICA). In addition, for all patients the cognitive evaluation was measured given the range in age and level of ability. Sixty-three percent of the children were diagnosed with at least one comorbid disorder. The most commonly reported comorbid disorders were anxiety disorders (58.3%), ADHD (31.6%), conduct disorders (23.3%), and major depressive disorder (13.3%). Out of the total sample, Obsessive compulsive disorder was the most prevalent anxiety disorder (55%). Elimination disorders were also diagnosed in 40% of patients. These findings emphasize a wide variety of psychiatric comorbidity afflicting youth with ASD and may be important targets for intervention.     

Mood disorders in children and adolescents: psychopharmacological treatment.

Mood disorders are the leading causes of morbidity and mortality in children and adolescence. As a result, many adolescents are treated with psychopharmacologic agents such as antidepressants and mood stabilizers. To date, research into the safety and efficacy of these medications has lagged behind clinical practice. Several controlled trials of antidepressants in this population have recently been completed or are ongoing, yet few controlled trials of mood stabilizers have been conducted. Although acute efficacy of antidepressants is being addressed, many questions remain about pharmacological treatment of early-onset mood disorders. This article will focus on unmet research needs for the psychopharmacologic treatment of child and adolescent mood disorders.