1. Burack JA, Evans DW, Napoleon JS, Weva VK, Russo N, Iarocci G. The science of humanity and the humanity of science: Perspectives on Ed Zigler’s contributions to developmental psychopathology and the study of all children. Development and psychopathology. 2021; 33(2): 441-52.

We present this article as a testament to Ed Zigler’s commitment to science in the service of humanity and to policy based on conceptually compelling theory and methodologically rigorous science. In doing so, we highlight ways that Ed’s universal and inclusive developmental world view, early training as a behaviorist, exacting scientific standards, concern for others, and appreciation of his own roots and upbringing all transformed the way that many different groups of people of all ages and backgrounds are studied, viewed, and intervened with by researchers, policy makers, and society at large. Ed’s narrative of development rather than defect, universality rather than difference, and holistic rather than reductionist continues to compel us in the quest for a kinder, more inclusive, and enabling society. Conversely, Ed’s behaviorist training as a graduate student also influenced him throughout his career and was essential to his career-long commitment to systemic action in the service of improving the lives of others. We cite the lessons that we, as his descendants, learned from Ed and apply them to our own areas of research with populations that Ed did not study, but had considerable interest in – persons with autism spectrum disorder and Indigenous youth.

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2. Chaxiong P, Burrows C, Botteron KN, Dager SR, Estes AM, Hazlett HC, Schultz RT, Zwaigenbaum L, Piven J, Wolff J. Relations of Restricted and Repetitive Behaviors to Social Skills in Toddlers with Autism. Journal of autism and developmental disorders. 2022; 52(4): 1423-34.

We examined the relations of restricted and repetitive behaviors (RRB; insistence on sameness, repetitive sensory-motor, self-injurious behavior) to social skills overall and aspects that comprise social skills as measured by the VABS-II (coping skills, play/leisure time, interpersonal relationships) in 24- (n = 63) and 36-month old (n = 35), high-familial-risk toddlers with ASD. Hierarchical linear regression results indicated that repetitive sensory-motor was the best predictor of social skills overall. Secondary results indicated that all three RRB subtypes were associated with each subdomain of social skills; however, repetitive sensory-motor was the strongest and most consistent among these effects. While our results suggests a general negative relation of subtypes of RRB to aspects of adaptive social function, repetitive sensory-motor behaviors may be of particular relevance to the development of social skills during toddlerhood.

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3. Fujimoto A, Enoki H, Niimi K, Nozaki T, Baba S, Shibamoto I, Otsuki Y, Oanishi T. Epilepsy in patients with focal cortical dysplasia may be associated with autism spectrum disorder. Epilepsy & behavior : E&B. 2021; 120: 107990.

INTRODUCTION: Patients with epilepsy associated with focal cortical dysplasia (FCD) may be associated with autism spectrum disorder (ASD). Therefore, the purpose of this study was to compare surgically treated patients with epilepsy secondary to FCD and normal volunteers without epilepsy and to review the neuropathological findings of patients with FCD. METHODS: This study involved 38 patients with medically intractable focal onset epileptic seizures who underwent epilepsy surgery (Group 1). All patients had epilepsy associated with FCD. These patients and 38 normal volunteers without epilepsy (Group 2) were administered the autism spectrum quotient (AQ) test, and the groups were compared. RESULTS: The 38 patients in Group 1 included 16 females and 22 males (age range 20-60, mean age, 33.0; standard deviation (SD), 11.8 years). The normal volunteers in Group 2 included 22 females and 16 males (age range 20-57, mean age, 30.6 years; SD, 8.8 years). Total AQ scores were significantly higher in Group 1 than Group 2 (p = 0.027). Patients with FCD I showed a higher AQ score than those with FCD II in the AQ test (p ≤ 0.001). CONCLUSION: Patients with epilepsy secondary to FCD were associated with higher ASD score than normal volunteers. This tendency was seen more strongly in patients with FCD I than FCD II.

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4. Griffin JW, Bauer R, Gavett BE. The Episodic Memory Profile in Autism Spectrum Disorder: A Bayesian Meta-Analysis. Neuropsychology review. 2021.

Although autism spectrum disorders (ASD) are commonly characterized by diminished episodic memory, the literature in this area is mixed. We address these inconsistent findings by employing multilevel Bayesian meta-analysis to quantify episodic memory differences between individuals with ASD and typically developing (TD) controls. We used meta-regression to evaluate the effects of test modality (e.g., word list, story recall), delay interval (immediate vs. delayed), retrieval demands (recognition vs. recall), and sensory modality (auditory vs. visual) on episodic memory in ASD. A total of 338 effect sizes from 113 empirical articles, including 5,632 unique participants (ASD = 2,777, TD = 2,855), were included. Results show that the memory deficits associated with ASD were larger for recall (g = -0.52, se = 0.04, 95% CrI [-0.60, -0.43]) compared to recognition (g = -0.25, se = 0.05, 95% CrI [-0.35, -0.14]) and differed based on the testing modality. For example, effect sizes were smallest for words (g = -0.28, se = 0.05, 95% CrI [-0.38, -0.18]), pictures (g = -0.38, se = 0.07, 95% CrI [-0.52, -0.24]), and figure reproduction (g = -0.49, se = 0.11, 95% CrI [-0.70, -0.27]). However, effect sizes for sentences (g = -0.59, se = 0.20, 95% CrI [-1.00, -0.21]), stories (Hedges’ g = -0.54, se = 0.08, 95% CrI [-0.69, -0.38]) and staged events (g = -0.75, se = 0.10, 95% CrI [-0.95, -0.55]) were much larger. These findings suggest that ASD is associated with a small to medium reduction in scores on episodic memory tests relative to TD controls.

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5. Gur A, Rimmerman A. Social involvement, socio-economic status and subjective well-being of parents of offspring with intellectual and developmental disabilities. Journal of intellectual disability research : JIDR. 2021; 65(9): 870-7.

BACKGROUND: The study explores whether households’ socio-economic status and social involvement can moderate the association between stress and subjective well-being among parents of offspring with intellectual and developmental disabilities (IDD). METHOD: The random national sample comprised 301 parents caring for offspring with IDD. Measurements consist of a household income survey, a questionnaire on resources and stress, a social involvement questionnaire and a personal well-being index. Using PROCESS software, a regression-based path analysis has been used to test the moderating effect of social involvement and socio-economic status on the association between stress and subjective well-being. RESULTS: Social involvement moderated the association between parental stress and subjective well-being. At high levels of parental stress only, parents with increased social involvement reported better subjective well-being. Significant interaction was observed between stress and socio-economic status. CONCLUSIONS: Among parents raising offspring with IDD, social involvement may enhance the relationship between parental stress and subjective well-being. At lower stress levels, better socio-economic status is associated with increased subjective well-being.

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6. Hodapp RM. Ed Zigler’s developmental approach to intellectual disabilities: Past, present, and future contributions. Development and psychopathology. 2021; 33(2): 453-65.

Comprising two parts, Ed Zigler’s developmental approach has greatly influenced how one conceptualizes children with intellectual disabilities (ID). In part one, Zigler championed a « two-group approach » concerning the cause of children’s ID. He distinguished persons with a clear, organic cause of their ID from those displaying no clear cause. Members of this « organic » group often displayed IQs below 50 and co-occurring physical-medical conditions. The second, « cultural-familial » group, mostly showed IQs of 50-70, did not possess co-occurring physical or health problems, and often came from families of lower IQs and lower socioeconomic status. While the presence of these two groups has been supported, recent advances have also further differentiated the organic group, mostly in relation to behavioral phenotypes of persons with several genetic etiologies. In part two, Zigler championed the child with ID as a « whole person. » Originally focused on the child’s reactions to social deprivation and failure, recent studies directly examine parent-child, within-family, and wider system interactions throughout the life span. For decades a force within the ID field, Zigler’s developmental approach to children with ID continues to influence researchers, interventionists, and policymakers.

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7. Huberty S, Carter Leno V, van Noordt SJR, Bedford R, Pickles A, Desjardins JA, Webb SJ, Elsabbagh M. Association between spectral electroencephalography power and autism risk and diagnosis in early development. Autism research : official journal of the International Society for Autism Research. 2021; 14(7): 1390-403.

Autism spectrum disorder (ASD) has its origins in the atypical development of brain networks. Infants who are at high familial risk for, and later diagnosed with ASD, show atypical activity in multiple electroencephalography (EEG) oscillatory measures. However, infant-sibling studies are often constrained by small sample sizes. We used the International Infant EEG Data Integration Platform, a multi-site dataset with 432 participants, including 222 at high-risk for ASD, from whom repeated measurements of EEG were collected between the ages of 3-36 months. We applied a latent growth curve model to test whether familial risk status predicts developmental trajectories of spectral power across the first 3 years of life, and whether these trajectories predict ASD outcome. Change in spectral EEG power in all frequency bands occurred during the first 3 years of life. Familial risk, but not a later diagnosis of ASD, was associated with reduced power at 3 months, and a steeper developmental change between 3 and 36 months in nearly all absolute power bands. ASD outcome was not associated with absolute power intercept or slope. No associations were found between risk or outcome and relative power. This study applied an analytic approach not used in previous prospective biomarker studies of ASD, which was modeled to reflect the temporal relationship between genetic susceptibility, brain development, and ASD diagnosis. Trajectories of spectral power appear to be predicted by familial risk; however, spectral power does not predict diagnostic outcome above and beyond familial risk status. Discrepancies between current results and previous studies are discussed. LAY SUMMARY: Infants with an older sibling who is diagnosed with ASD are at increased risk of developing ASD themselves. This article tested whether EEG spectral power in the first year of life can predict whether these infants did or did not develop ASD.

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8. Hyman SE. Use of mouse models to investigate the contributions of CNVs associated with schizophrenia and autism to disease mechanisms. Current opinion in genetics & development. 2021; 68: 99-105.

Human genetics is providing much needed clues to mechanisms underlying neuropsychiatric disorders. Highly penetrant copy number variants (CNVs) were among the first genetic variants confidently associated with schizophrenia and autism spectrum disorders (ASDs). Despite their structural complexity, the high penetrance of CNVs associated with neuropsychiatric disorders suggested utility for construction of cellular and animal models. Human cellular models that carry disease associated alleles have the advantage of human genetic backgrounds against which to study the effects of CNVs. However, investigation of the effects of disease-associated alleles on the structure and function of living brains requires genome engineering of model organisms or introduction of genetic material into their brains by viral vectors. Here I focus on the translational utility of transgenic mice that carry models of human neuropsychiatric CNVs, while recognizing their limitations as veridical models of complex human brain disorders. In order to improve translational utility and avoid the intellectual cul-de-sacs that often bedevil interpretation of neuropsychiatric disease models, I conclude with a ‘draft’ proposal to replace current concepts of construct and face validity with more nuanced and contextually relevant judgments.

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9. John TS, Estes A, Begay KK, Munson J, Reiter MA, Dager SR, Kleinhans N. Characterizing Social Functioning in School-Age Children with Sensory Processing Abnormalities. Journal of autism and developmental disorders. 2022; 52(3): 1361-73.

Children with sensory abnormalities (SAs) have a variety of social problems resulting in poorer social functioning than children with typical development (TD). We describe the relationship between SAs and social functioning in school-age children with SAs, children with TD and a clinical comparison sample of children with autism spectrum disorder (ASD). Children with SAs demonstrated impaired social functioning on standardized measures. Children with SAs demonstrated worse social functioning than children with TD and equivalent social functioning to children with ASD. Increased SAs were associated with poorer social functioning across all groups. The results suggest that children with SAs experience clinically significant problems with social functioning and future research is needed to develop interventions to support social functioning in this population.

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10. Morales-Moreno I, Cerezo-Chuecos F, Balanza-Galindo S, Gómez-Díaz M, Echevarría-Pérez P. Implementation of Assisted Therapy With Dogs in the Therapeutic Approach to People With Autistic Spectrum Disorder. Holistic nursing practice. 2020; 34(5): 282-90.

A holistic intervention is needed for individuals who suffer from autism spectrum disorders. Our objective was to work with these individuals in a multidisciplinary manner through the use of animal-assisted therapy, finding improvements in the experimental group as compared with the control group in the different evaluated areas.

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11. Phakey S, Walterfang M. Pathophysiology and management of neuropsychiatric symptoms in succinic semialdehyde dehydrogenase deficiency. Psychiatric genetics. 2021; 31(3): 100-1.

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12. Rubenstein E, Ehrenthal DB, Mallinson DC, Bishop L, Kuo HH, Durkin MS. Birth outcomes affecting infants of mothers with intellectual and developmental disabilities. Paediatric and perinatal epidemiology. 2021; 35(6): 706-16.

BACKGROUND: Women with intellectual and developmental disabilities (IDD) face increased risk of adverse maternal pregnancy outcomes, yet less is known about infant outcomes. OBJECTIVES: To examine birth outcomes of infants born to mothers with IDD and assess associations with demographics and IDD-type. METHODS: We used data from the Big Data for Little Kids project, which links Wisconsin birth records to Medicaid claims for live births covered by Medicaid from 2007 to 2016. We identified IDD using maternal prepregnancy Medicaid claims and ran Poisson regression (with a log link function) with robust variance clustered by mother to compare prevalence of outcomes between singleton births with and without mothers with IDD. We adjusted the associations for demographic factors and estimated prevalence ratios (PR) as the effect measure. We assessed outcomes by IDD-type (intellectual disability, genetic conditions, cerebral palsy, and autism spectrum disorder) to explore differences by categories of IDD. RESULTS: Of 267,395 infants, 1696 (0.6%) had mothers with IDD. A greater percentage of infants with mothers with IDD were born preterm (12.8% vs 7.8%; PR 1.64, 95% confidence interval [CI] 1.42, 1.89), small for gestational age (8.5% vs 5.4%; PR 1.42, 95% CI 1.25, 1.61), and died within 12 months of birth (3.2% vs 0.7%; PR 4.93, 95% CI 3.73, 6.43) compared to infants of mothers without IDD. Prevalence ratios were robust to adjustment for demographics factors. Estimates did not meaningfully differ when comparing different IDD-types. CONCLUSIONS: A greater porportion of infants born to mothers with IDD who were covered by Medicaid had poor outcomes compared to other infants. Prevalence of poor infant outcomes was greater for mothers with IDD even after accounting for demographic differences. It is imperative to understand why infants of mothers with IDD are at greater risk so interventions and management can be developed.

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13. St John B, Ausderau K. Relationships Between Household Income and Functional Independent Behavior for Children With Autism. OTJR : occupation, participation and health. 2021; 41(4): 243-50.

Children in lower income households are less likely to be diagnosed with autism spectrum disorder (ASD) and diagnosis is often delayed. Lack of or delayed identification of ASD minimizes a child’s ability to receive effective early intervention services that support development of functional independence skills. Research has yet to identify relationships between functional independence and household income for children with ASD. A cross-sectional national survey with 231 caregivers of children with autism aged 2-12 years was conducted. Caregivers completed a 90-min survey examining family demographics, intervention services, autism symptom severity, and children’s functional behavioral outcomes. Significant differences in functional independence behavior scores were identified for children from the highest and lowest income categories when controlling for autism symptom severity, age of diagnosis, and receipt of intervention services. This study provides preliminary evidence to support the association between income and functional independent behavior for children with ASD.

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14. Thapa S, Venkatachalam A, Khan N, Naqvi M, Balderas M, Runge JK, Haag A, Hoch KM, Glaze DG, Luna RA, Motil KJ. Assessment of the gut bacterial microbiome and metabolome of girls and women with Rett Syndrome. PloS one. 2021; 16(5): e0251231.

BACKGROUND: Gastrointestinal problems affect the health and quality of life of individuals with Rett syndrome (RTT) and pose a medical hardship for their caregivers. We hypothesized that the variability in the RTT phenotype contributes to the dysbiosis of the gut microbiome and metabolome in RTT, predisposing these individuals to gastrointestinal dysfunction. OBJECTIVES: We characterized the gut bacterial microbiome and metabolome in girls and young women with RTT (n = 44) and unaffected controls (n = 21), and examined the relation between the composition of the microbiome and variations in the RTT phenotype. METHODS: Demographics and clinical information, including growth and anthropometric measurements, pubertal status, symptoms, clinical severity score, bowel movement, medication use, and dietary intakes were collected from the participants. Fecal samples were collected for analysis of the gut microbiome using Illumina MiSeq-based next-generation sequencing of the 16S rRNA gene followed by bioinformatics analysis of microbial composition, diversity, and community structure. Selected end-products of microbial protein metabolism were characterized by liquid chromatography-mass spectrometry. RESULTS: The gut bacterial microbiome differed within the RTT cohort based on pubertal status (p<0.02) and clinical severity scores (p<0.02) of the individuals and the type of diet (p<0.01) consumed. Although the composition of the gut microbiome did not differ between RTT and unaffected individuals, concentrations of protein end-products of the gut bacterial metabolome, including γ-aminobutyric acid (GABA) (p<0.001), tyrosine (p<0.02), and glutamate (p<0.06), were lower in the RTT cohort. Differences in the microbiome within RTT groups, based on symptomatic anxiety, hyperventilation, abdominal distention, or changes in stool frequency and consistency, were not detected. CONCLUSIONS: Although variability in the RTT phenotype contributes to the dysbiosis of the gut microbiome, we presently cannot infer causality between gut bacterial dysbiosis and gastrointestinal dysfunction. Nevertheless, alterations in the gut metabolome may provide clues to the pathophysiology of gastrointestinal problems in RTT.

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15. Wang Y, Zhang J, Song W, Tian X, Liu Y, Wang Y, Ma J, Wang C, Yan G. A proteomic analysis of urine biomarkers in autism spectrum disorder. Journal of proteomics. 2021; 242: 104259.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by early-onset social-communication challenges, restricted and repetitive behaviors, or unusual sensory-motor behaviors. A lack of specific biomarkers hinders the early diagnosis and treatment of this disease in many children. This study analyzes and validates potential urinary biomarkers using mass spectrometry proteomics. Global proteomics profiles of urine from 19 ASD patients and 19 healthy control subjects were compared to identify significantly changed proteins. These proteins were validated with targeted proteomics using parallel reaction monitoring (PRM) in an independent validation set consisting of samples from 40 ASD patients and 38 healthy controls. A total of 34 significantly changed proteins were found in the discovery set, among which seven proteins were identified as potential biomarkers for ASD through PRM assays in the validation set. Of these seven proteins, immunoglobulin kappa variable 4-1, immunoglobulin kappa variable 3-20, and immunoglobulin lambda variable 1-51 were up-regulated, while ATP synthase F1 subunit alpha, 10 kDa heat shock protein, apolipoprotein C-III, and arylsulfatase F were down-regulated. Six of these seven proteins support previous findings that ASD is accompanied by altered immune response and lipid metabolism, as well as mitochondrial dysfunction. This study lays the groundwork for additional research using biomarkers to clinically diagnose ASD. The proteomics and PRM raw data of this study have been deposited under the accession number IPX0002592000 at iProX. SIGNIFICANCE: This study identified 34 proteins in urine of ASD patients that were significantly changed from the urinary proteins of healthy subjects using LC-MS/MS-based proteomics in a discovery set. Seven of these proteins were validated by PRM analysis in an independent validation set. This report represents the first description of combined label-free quantitative proteomics and PRM analysis of targeted proteins for discovery of ASD urinary biomarkers. The results will be helpful for early diagnosis and can provide additional insight into the molecular mechanisms of ASD.

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