Prospects for Leveling the Playing Field for Black Children With Autism.

Among the many race-based health disparities that have persistently plagued the US population,1 the disproportionate burden of adverse neurodevelopmental outcomes to Black children affected by autism spectrum disorder (ASD) is particularly devastating given its major lifelong consequences. Recently, in 3 successive reports from the Autism and Developmental Disabilities Monitoring (ADDM) program of the US Centers for Disease Control and Prevention (CDC) (birth cohort years 2014, 2016, and 2018), we and our collaborators reported that although the prevalence of community-diagnosed ASD had equalized for Black and non-Hispanic White (NHW) children in the United States, there has persisted a pronounced racial disparity in the proportion of ASD-affected children with comorbid intellectual disability (ID), on the order of 50% for Black children with ASD vs 20% for White children with ASD.2 Here, we provide data to support the following: much earlier diagnosis is possible; early diagnosis alone is not likely to close the ID comorbidity disparity; and judicious efforts over care as usual are necessary to ensure that Black children have access to timely implementation of developmental therapy, for which we observed promising associations with improved cognitive and adaptive outcomes in our sample.

Timing of the Diagnosis of Autism in African American Children.

OBJECTIVES: African American (AA) children affected by autism spectrum disorder (ASD) experience delays in diagnosis and obstacles to service access, as well as a disproportionate burden of intellectual disability (ID) as documented in surveillance data recently published by the US Centers for Disease Control and Prevention. Our objective in this study was to analyze data from the largest-available repository of diagnostic and phenotypic information on AA children with ASD, and to explore the wide variation in outcome within the cohort as a function of sociodemographic risk and specific obstacles to service access for the purpose of informing a national approach to resolution of these disparities. METHODS: Parents of 584 AA children with autism consecutively enrolled in the Autism Genetic Resource Exchange across 4 US data collection sites completed event history calendar interviews of the diagnostic odysseys for their children with ASD. These data were examined in relation to developmental outcomes of the children with autism and their unaffected siblings. RESULTS: The average age of ASD diagnosis was 64.9 months (±49.6), on average 42.3 months (±45.1) after parents' first concerns about their children's development. The relationship between timing of diagnosis and ASD severity was complex, and ID comorbidity was not predicted in a straightforward manner by familial factors associated with cognitive variation in the general population. CONCLUSIONS: These findings document significant opportunity to expedite diagnosis, the need to further understand causes of ID comorbidity, and the necessity to identify effective approaches to the resolution of disparities in severity-of-outcome for AA children with autism.

Autism-Related Variation in Reciprocal Social Behavior: A Longitudinal Study.

Deficits in reciprocal social behavior are a characterizing feature of autism spectrum disorder (ASD). Autism-related variation in reciprocal social behavior (AVR) in the general population is continuously distributed and highly heritable-a function of additive genetic influences that overlap substantially with those which engender clinical autistic syndromes. This is the first long-term prospective study of the stability of AVR from childhood through early adulthood, conducted via serial ratings using the Social Responsiveness Scale, in a cohort-sequential study involving children with ASD, other psychiatric conditions, and their siblings (N = 602, ages = 2.5-29). AVR exhibits marked stability throughout childhood in individuals with and without ASD.

Quantitative autistic trait measurements index background genetic risk for ASD in Hispanic families.

BACKGROUND: Recent studies have indicated that quantitative autistic traits (QATs) of parents reflect inherited liabilities that may index background genetic risk for clinical autism spectrum disorder (ASD) in their offspring. Moreover, preferential mating for QATs has been observed as a potential factor in concentrating autistic liabilities in some families across generations. Heretofore, intergenerational studies of QATs have focused almost exclusively on Caucasian populations-the present study explored these phenomena in a well-characterized Hispanic population. METHODS: The present study examined QAT scores in siblings and parents of 83 Hispanic probands meeting research diagnostic criteria for ASD, and 64 non-ASD controls, using the Social Responsiveness Scale-2 (SRS-2). Ancestry of the probands was characterized by genotype, using information from 541,929 single nucleotide polymorphic markers. RESULTS: In families of Hispanic children with an ASD diagnosis, the pattern of quantitative trait correlations observed between ASD-affected children and their first-degree relatives (ICCs on the order of 0.20), between unaffected first-degree relatives in ASD-affected families (sibling/mother ICC = 0.36; sibling/father ICC = 0.53), and between spouses (mother/father ICC = 0.48) were in keeping with the influence of transmitted background genetic risk and strong preferential mating for variation in quantitative autistic trait burden. Results from analysis of ancestry-informative genetic markers among probands in this sample were consistent with that from other Hispanic populations. CONCLUSIONS: Quantitative autistic traits represent measurable indices of inherited liability to ASD in Hispanic families. The accumulation of autistic traits occurs within generations, between spouses, and across generations, among Hispanic families affected by ASD. The occurrence of preferential mating for QATs-the magnitude of which may vary across cultures-constitutes a mechanism by which background genetic liability for ASD can accumulate in a given family in successive generations.

Personality and posttraumatic stress disorder among directly exposed survivors of the Oklahoma City bombing.

BACKGROUND: Few disaster studies have specifically examined personality in association with exposure to disaster and development of posttraumatic stress disorder (PTSD). A study of survivors of the Oklahoma City bombing examined PTSD and personality measured after the disaster. METHODS: In a random sample of 255 survivors from a bombing survivor registry, 151 (59%) completed both full PTSD and personality assessments using the Diagnostic Interview Schedule and the Temperament and Character Inventory, respectively. RESULTS: Postbombing PTSD was associated with low self-directedness and low cooperativeness, and also with high self-transcendence and harm avoidance in most configurations. Disorganized (schizotypal) character and explosive (borderline) temperament configurations were associated with PTSD; creative and autocratic character configurations were negatively associated with PTSD. CONCLUSIONS: Clinicians should be vigilant for PTSD among individuals with personality disorders and also be aware that personality disorders are likely to be overrepresented among people with PTSD. Treatment of PTSD may need to take into account comorbid personality disorders and personality features.

The use of psychoeducation for a patient with hepatitis C and psychiatric illness in preparation for antiviral therapy: a case report and discussion.

The standard of care treatment for chronic hepatitis C viral infection (HCV) is a combination of pegylated interferon alfa and ribavirin for 24-48 weeks according to the virus genotype. This therapy is known to have multiple neuropsychiatric side effects. A major concern when evaluating a patient for HCV treatment with a known history of a psychiatric disorder is the risk that the patient's psychiatric disorder will flare or become unmanageable. The possibility of precipitating depression, confusion, mania, psychosis, hallucinations, or suicidal ideation or attempt is frequently an obstacle to treatment. We present the case of a 50 year-old man with HCV and an extensive psychiatric history involving alcoholism, depression, and suicidality who participated in a psychoeducation group to help prepare him for treatment with pegylated interferon alfa/ribavirin therapy. Though the patient derived much benefit from the psychoeducation group, by the time of evaluation for HCV treatment two months after the group ended he had relapsed back into a depressive episode with suicidal thoughts. His acute psychiatric status made him unacceptable for pegylated interferon alfa/ribavirin therapy. Psychoeducation groups show promise for helping patients with chronic medical illness to be ready for and endure intensive medical treatment that has substantial psychiatric side effects. The challenge is to help patients overcome barriers to treatment, particularly psychosocial problems, because available treatments are increasingly effective.

Sibling recurrence and the genetic epidemiology of autism.

OBJECTIVE: Although the symptoms of autism exhibit quantitative distributions in nature, estimates of recurrence risk in families have never previously considered or incorporated quantitative characterization of the autistic phenotype among siblings. METHOD: The authors report the results of quantitative characterization of 2,920 children from 1,235 families participating in a national volunteer register, with at least one child clinically affected by an autism spectrum disorder and at least one full biological sibling. RESULTS: A traditionally defined autism spectrum disorder in an additional child occurred in 10.9% of the families. An additional 20% of nonautism-affected siblings had a history of language delay, one-half of whom exhibited autistic qualities of speech. Quantitative characterization using the Social Responsiveness Scale supported previously reported aggregation of a wide range of subclinical (quantitative) autistic traits among otherwise unaffected children in multiple-incidence families and a relative absence of quantitative autistic traits among siblings in single-incidence families. Girls whose standardized severity ratings fell above a first percentile severity threshold (relative to the general population distribution) were significantly less likely to have elicited community diagnoses than their male counterparts. CONCLUSIONS: These data suggest that, depending on how it is defined, sibling recurrence in autism spectrum disorder may exceed previously published estimates and varies as a function of family type. The results support differences in mechanisms of genetic transmission between simplex and multiplex autism and advance current understanding of the genetic epidemiology of autism spectrum conditions.

Sensory responsiveness as a predictor of social severity in children with high functioning autism spectrum disorders.

This study examines the relationship between sensory responsiveness and social severity in children with high functioning autism spectrum disorders (HFASD; N = 36) and age-matched controls (N = 26) between 6 and 10 years old. Significant relationships were found between social responsiveness scale scores and each of the six sensory profile sensory system scores for children with HFASD and controls. Multivariate regression analyses revealed atypical scores from multisensory responsiveness, and responsiveness of the proximal senses of oral sensory/olfactory and touch as the strongest predictors of greater social impairment in the participants. Findings suggest that the relationship between sensory responsiveness and other autistic traits is more important than previously recognized and addressing sensory modulation issues in children with HFASD may be more critical than previously understood.

Multi-informant ratings of psychiatric symptom severity in children with autism spectrum disorders: the importance of environmental context.

The present study examines co-occurring psychiatric syndromes in a well-characterized sample of youths with autism spectrum disorders (ASD; n = 177) and their siblings (n = 148), reported independently by parents and teachers. In ASD, parents reported substantial comorbidity with affective (26%), anxiety (25%), attentional (25%), conduct (16%), oppositional (15%), and somatic problems (6%). Teachers reported a much lower prevalence. Autistic severity scores for children with ASD exhibited moderate correlations with general psychopathology within- but not across-informants, whereas, sibling correlations were significant both within- and across-informants. Results support the role of environmental context in psychiatric symptom expression in children affected by autism and suggest that informant discrepancies may more provide critical cues for these children via specific environmental modifications.

Developmental course of autistic social impairment in males.

Recent research has suggested that autistic social impairment (ASI) is continuously distributed in nature and that subtle autistic-like social impairments aggregate in the family members of children with pervasive developmental disorders (PDDs). This study examined the longitudinal course of quantitatively characterized ASI in 3- to 18-year-old boys with and without PDD. We obtained assessments of 95 epidemiologically ascertained male-male twin pairs and a clinical sample of 95 affected children using the Social Responsiveness Scale (SRS), at two time points, spaced 1-5 years apart. Longitudinal course was examined as a function of age, familial loading for PDD, and autistic severity at baseline. Interindividual variation in SRS scores was highly preserved over time, with test-retest correlation of 0.90 for the entire sample. SRS scores exhibited modest general improvement over the study period; individual trajectories varied as a function of severity at baseline and were highly familial. Quantitative measurements of ASI reflect heritable traitlike characteristics. Such measurements can serve as reliable indices of phenotypic severity for genetic and neurobiologic studies, and have potential utility for ascertaining incremental response to intervention.

Familial aggregation of quantitative autistic traits in multiplex versus simplex autism.

Recent research has suggested that the mode of inheritance for simplex autism (SA, one individual in the family affected) may be distinct from that for multiplex autism (MA, two or more individuals affected). Since sub clinical autistic traits have been observed in "unaffected" relatives of children with autism, we explored whether the distributions of such traits in families supported differential modes of genetic transmission for SA and MA autism. We measured patterns of familial aggregation of quantitative autistic traits (QAT) in children and parents in 80 SA families and 210 MA families, using the Social Responsiveness Scale. When considering all SA and MA siblings who scored below a uniform quantitative (clinical-level) severity threshold, MA brothers exhibited a distinct pathological shift in the distribution, compared to SA brothers (P < 0.0001). Such aggregation of QAT was also observed in fathers but not among females in MA families. Significant spousal correlations for QAT-suggestive of assortative mating-were observed in both SA and MA families, but neither group was characterized by a greater-than-chance level of concordant elevation among spousal pairs in this volunteer sample. Among male first degree relatives, there exist distinct patterns of QAT manifestation for simplex versus multiplex autism. These findings are consistent with the results of molecular genetic studies that have suggested differential modes of intergenerational transmission for SA and MA. Characterization of QAT and other endophenotypes among close relatives may be useful for reducing sample heterogeneity in future genetic and neurobiologic studies of autism.

Rapid quantitative assessment of autistic social impairment by classroom teachers.

OBJECTIVE: Teachers routinely observe children in the naturalistic social contexts of their classrooms and provide extremely important input in the evaluation of numerous psychiatric syndromes. Their precision in ascertaining and quantifying autistic symptomatology has not previously been established. In this study, we compared teachers' ratings of autistic symptomatology with those derived from parents, expert clinicians, and trained raters. METHOD: A total of 577 subjects (ages 4-18 years) with (n = 406) and without (n = 171) pervasive developmental disorders (PDDs) were assessed by one parent and one current teacher using the Social Responsiveness Scale, a quantitative measure of autistic traits. PDD subjects were assessed by expert clinicians, the Autism Diagnostic Interview-Revised, and/or the Autism Diagnostic Observation Schedule. All of the assessments were conducted during the period 1996-2006. RESULTS: Teacher Social Responsiveness Scale reports exhibited strong correlations with parent reports (0.72); use of quantitative ratings from both informants resulted in extremely high sensitivity and specificity for clinical and research diagnoses of PDDs (area under receiver operating characteristics curve = .95). CONCLUSIONS: Rapid quantitative assessments by teachers and parents constitute a cost-effective method for measuring and tracking the severity of autistic symptomatology in both educational and clinical settings.

Lack of evidence for increased genetic loading for autism among families of affected females: a replication from family history data in two large samples.

Both the broad and narrow phenotypes of autism have been consistently observed in family members of affected individuals. Additionally, autism spectrum disorders (ASDs) present four times more often in males than in females, for reasons that are currently unknown. In this study, we examined whether there were differences in familial loading of ASD among families of male versus female probands. Analyses were conducted with existing data from two distinct samples. The first sample contained 417 individuals with autism and Asperger's disorder and included information on the ASD diagnoses of their first- and second-degree relatives. The second sample consisted of 405 sibships participating in the Autism Genetic Resource Exchange, of which one or more siblings had an ASD diagnosis. Results from both samples did not suggest significant differences in the prevalence of ASD among relatives of affected males versus females.

Discrepancies in estimates of prevalence and correlates of substance use and disorders between two national surveys.

AIM: To assess the degree to which methodological differences might influence estimates of prevalence and correlates of substance use and disorders by comparing results from two recent surveys administered to nationally representative US samples. METHODS: Post-hoc comparison of data from the 2002 National Survey on Drug Use and Health (NSDUH) with data from the National Epidemiologic Survey on Alcohol and Related Conditions (NESARC) administered in 2001-02. RESULTS: Prevalence estimates for all substance use outcomes were higher in the NSDUH than in the NESARC; ratios of NSDUH to NESARC prevalences ranged from 2.1 to 5.7 for illegal drug use outcomes. In the NSDUH, past-year substance use disorder (SUD) prevalence estimates were higher for cocaine and heroin, but were similar to NESARC estimates for alcohol, marijuana and hallucinogens. However, prevalence estimates for past-year SUD conditional on past-year use were substantially lower in the NSDUH for marijuana, hallucinogens and cocaine. Associations among drug and SUD outcomes were substantially higher in the NESARC. Total SUD prevalence did not differ between surveys, but estimates for blacks and Hispanics were higher in the NSDUH. CONCLUSION: A number of methodological variables might have contributed to such discrepancies; among plausible candidates are factors related to privacy and anonymity, which may have resulted in higher use estimates in the NSDUH, and differences in SUD diagnostic instrumentation, which may have resulted in higher SUD prevalence among past-year substance users in the NESARC.

Clarifying the associations between language and social development in autism: a study of non-native phoneme recognition.

Autism spectrum disorders (ASDs) are characterized by correlated deficiencies in social and language development. This study explored a fundamental aspect of auditory information processing (AIP) that is dependent on social experience and critical to early language development: the ability to compartmentalize close-sounding speech sounds into singular phonemes. We examined this ability by assessing whether close-sounding non-native language phonemes were more likely to be perceived as disparate sounds by school-aged children with high-functioning ASD (n = 27), than by unaffected control subjects (n = 35). No significant group differences were observed. Although earlier in autistic development there may exist qualitative deficits in this specific aspect of AIP, they are not an enduring characteristic of verbal school-aged children with ASD.

Quantitative assessment of autistic symptomatology in preschoolers.

Given a growing emphasis on early intervention for children with autism, valid quantitative tools for measuring treatment response are needed. The Social Responsiveness Scale (SRS) is a brief (15-20 minute) quantitative measure of autistic traits in 4-to 18-year-olds, for which a version for 3-year-olds was recently developed. We obtained serial SRS measurements on 73 preschool children with (n = 51) and without (n = 22) autism spectrum conditions. Inter-rater reliability (mothers and teachers) and test-retest reliability were of the order of 0.75 (Pearson's r). There was substantial agreement between SRS scores and (1) the Vineland Adaptive Behavior Composite (Pearson's r = -0.86) and (2) scores for social impairment on the Autism Diagnostic Interview-Revised (r = 0.63). Overall, quantitative autistic trait scores tended to improve over time in preschoolers, irrespective of treatment conditions. We conclude that it is possible to obtain reliable quantitative measurements of autistic social impairment in preschoolers, suitable for assessing treatment response.

Autistic social impairment in the siblings of children with pervasive developmental disorders.

OBJECTIVE: Sibling recurrence risk in autism has been estimated to be approximately 10%. This study investigated subsyndromal autistic impairments among siblings of probands with pervasive developmental disorders. METHOD: The authors used the Social Responsiveness Scale to obtain quantitative assessments of autistic social impairment in three groups of proband-sibling pairs: 1) autistic children from multiple-incidence families and their closest in age nonautistic brothers (N=49 pairs); 2) children with any pervasive developmental disorder, including autism, and their closest-in-age brothers (N=100 pairs), and 3) children with psychopathology unrelated to autism and their closest-in-age brothers (N=45 pairs). RESULTS: Sibling Social Responsiveness Scale scores were continuously distributed and substantially elevated for both the autistic and pervasive developmental disorder groups. Highest scores (i.e., greatest impairment) were seen among siblings of autistic probands from multiple-incidence families, followed by siblings of probands with any pervasive developmental disorder, then siblings of probands with psychopathology unrelated to autism. CONCLUSIONS: Taken together with previous findings, these results support the notion that genetic susceptibility factors responsible for common, subsyndromal social impairments may be related to the causes of categorically defined pervasive developmental disorders.