Adaptive Functioning Scores Research Articles

Evaluating the effectiveness of the CAIDS-Q for screening for intellectual disability in mainstream schools

Objectives The identification of intellectual disability in children can help them access targeted support and interventions. Research suggests that current methods of identifying intellectual disability in schools in the United Kingdom need to be improved. Screening tools can play a role in this. The study examined the performance of the Child and Adolescent Intellectual Disability Screening Questionnaire (CAIDS-Q) in mainstream schools as a means of facilitating identification of intellectual disability. Methods Parents and/or teachers of 70 children completed the CAIDS-Q and an assessment of adaptive functioning about them. Children who were indicated as having difficulties completed an intellectual assessment. The data were used to explore some psychometric properties of the CAIDS-Q. Results The CAIDS-Q had sensitivity and specificity values of 100% and 79% respectively when completed by teachers and 92% and 70% when completed by parents. CAIDS-Q scores correlated positively with intellectual and adaptive functioning scores, with large and medium effect sizes respectively. There was moderate agreement between parents and teachers on the outcome of the CAIDS-Q. Conclusions The CAIDS-Q, when used in mainstream schools, had psychometric properties consistent with those found in health service settings. It may offer a way of improving identification of intellectual disability in educational settings.

Females evaluated for autism: characteristics and co-occurring and differential DSM-5 diagnoses

Objective: While sex differences in autism spectrum disorder (ASD) have been identified in areas such as neurocognitive functioning, behavior patterns, and diagnostic criteria, less work has focused on differences within females referred for ASD evaluation, including those who did not go on to receive a diagnosis. This study examined psychological and behavioral characteristics and co-occurring and differential DSM-5 diagnoses between pediatric female participants who received an ASD diagnosis (ASD+) and those who did not (ASD-). Method: Data on cognitive functioning, adaptive functioning, internalizing symptoms, externalizing symptoms, and ADOS-2 scores were analyzed among 137 3- to 20-year-old patients. The sample was divided into two age groups (ages 3–8 and ages 9–20) for analyses of between-group differences (ASD+ vs. ASD-) and predictors of group membership. Results: Females in the ASD+ group were significantly younger, had lower cognitive scores, lower internalizing and externalizing symptoms, and had higher Autism Diagnostic Observation Schedule-2 (ADOS-2) scores than those in the ASD- group. ADOS-2 scores were also the only significant predictor of ASD group membership across age groups. The ASD+ group had a higher percentage of intellectual disability while the ASD- group had higher percentages of anxiety disorder, attention-deficit/hyperactivity disorder, and disruptive behavior disorders. Conclusions: Psychological and behavioral presentations among females referred for ASD evaluation varied with age and ASD diagnostic groups. These results highlight potential female differences in ASD referrals and identification of ASD and the need to improve care for females in consideration of demographic factors.

49 Examining Associations Between Intelligence and Adaptive Functioning in Adults with Down Syndrome at Risk for Alzheimer's Disease

Objective:Individuals with Down syndrome (DS) experience intellectual disability, such that measures of cognitive and adaptive functioning are near the normative floor upon evaluation. Individuals with DS are also at increased risk for Alzheimer's disease (AD) beginning around age 40; and test performances and adaptive ratings at the normative floor make it difficult to detect change in cognition and functioning. This study first assessed the range of raw intelligence scores and raw adaptive functioning of individuals with DS at the normative floor. Next, we assessed whether those raw intelligence scores were predictive of raw adaptive functioning scores, and by association, whether they may be meaningful when assessing change in individuals with a lower baseline of cognitive functioning.Participants and Methods:Participants were selected from a cohort of 117 adults with DS in a longitudinal study examining AD risk. Participants (n=96; M=40.9 years-old, SD=10.67; 57.3% female) were selected if they had both a completed measure of IQ (Kaufmann Brief Intelligence Test; KBIT2) and informant ratings of adaptive functioning (Vineland Adaptive Behavior Scales; VABS-II). Multiple regression was conducted predicting VABS-II total raw score using K-BIT2 total raw score, while controlling for age.Results:A slight majority (57.3%) of the sample had a standardized IQ score of 40 with the majority (95.7%) having a standardized score at or below 60. Additionally, 85.3% of the sample had a standard VABS-II score at or below 60. Within the normative floor for the KBIT2 (IQ=40), there was a normal distribution and substantial range of both KBIT2 raw scores (M = 31.19, SD = 13.19, range: 2 to 41) and VABS-II raw scores (M = 406.33, SD = 84.91, range: 198 to 569). Using the full sample, age significantly predicted raw VABS-II scores (ß = -.283, p = .008). When KBIT2 raw scores were included in the model, age was no longer an independently significant predictor. KBIT2 raw scores significantly predicted raw VABS-II scores (ß = .689, p < .001). Age alone accounted for 8.0% of variance in VABS-II raw scores and KBIT2 raw scores accounted for 43.8% additional variance in VABS-II raw scores. This relationship was maintained when the sample was reduced to individuals at the normative floor (n = 51) where KBIT2 raw scores accounted for 23.7% of the variance in raw VABS-II scores (ß = .549, p < .001).Conclusions:The results indicate that meaningful variability exists among raw intelligence test performances that may be masked by scores at the normative floor. Further, the variability in raw intelligence scores is associated with variability in adaptive functioning, such that lower intelligence scores are associated with lower ratings of adaptive functioning. Considering this relationship would be masked by a reduction of range due to norming, these findings indicate that raw test performances and adaptive functioning ratings may have value when monitoring change in adults with DS at risk for AD.

Associations of prenatal exposure to a mixture of persistent organic pollutants with social traits and cognitive and adaptive function in early childhood: Findings from the EARLI study

BackgroundLiterature suggests that maternal exposure to persistent organic pollutants (POPs) may influence child neurodevelopment. Evidence linking prenatal POPs and autism spectrum disorder has been inconclusive and few studies have examined the mixture effect of the POPs on autism-related traits. ObjectiveTo evaluate the associations between prenatal exposure to a mixture of POPs and autism-related traits in children from the Early Autism Risk Longitudinal Investigation study. MethodsMaternal serum concentrations of 17 POPs (11 polychlorinated biphenyls [PCBs], 4 polybrominated diphenyls [PBDEs], and 2 persistent pesticides) in 154 samples collected during pregnancy were included in this analysis. We examined the independent associations of the natural log-transformed POPs with social, cognitive, and behavioral traits at 36 months of age, including Social Responsiveness Scale (SRS), Mullen Scales of Early Learning-Early Learning Composite (MSEL-ELC), and Vineland Adaptive Behavior Scales (VABS) scores, using linear regression models. We applied Bayesian kernel machine regression and quantile g-computation to examine the joint effect and interactions of the POPs. ResultsHigher ln-PBDE47 was associated with greater deficits in social reciprocity (higher SRS score) (β = 6.39, 95% CI: 1.12, 11.65) whereas higher ln-p,p’-DDE was associated with lower social deficits (β = −8.34, 95% CI: −15.32, −1.37). Positive associations were observed between PCB180 and PCB187 and cognitive (MSEL-ELC) scores (β = 5.68, 95% CI: 0.18, 11.17; β = 4.65, 95% CI: 0.14, 9.17, respectively). Adaptive functioning (VABS) scores were positively associated with PCB170, PCB180, PCB187, PCB196/203, and p,p’-DDE. In the mixture analyses, we did not observe an overall mixture effect of POPs on the quantitative traits. Potential interactions between PBDE99 and other PBDEs were identified in association with MSEL-ELC scores. ConclusionsWe observed independent effects of PCB180, PCB187, PBDE47, and p,p’ DDE with ASD-related quantitative traits and potential interactions between PBDEs. Our findings highlight the importance of assessing the effect of POPs as a mixture.

Intelligence profiles and adaptive behaviors of high-functioning autism spectrum disorder and developmental speech and language disorders.

The present study was aimed at investigating the intelligence profiles and adaptive behaviors of children with high-functioning autism spectrum disorder (HFASD) and developmental speech and language disorders (DSLDs). We compared the similarities and differences of cognitive capabilities and adaptive functions and explored their correlations in the HFASD and DSLDs groups. 128 patients with HFASD, 111 patients with DSLDs and 114 typically developing (TD) children were enrolled into our study. Wechsler Intelligence Scale for Children-IV (WISC-IV) and Adaptive Behavior Assessment System-II (ABAS-II) were respectively applied to evaluate intelligence profiles and adaptive behaviors. Intelligence quotient (IQ) scores and adaptive functioning scores among the HFASD, DSLDs and TD groups were compared through one-way ANOVA. Pearson correlation coefficient was applied to examine the relationships between WISC indices and ABAS domains. Outcomes showed significantly poorer intelligence profiles and adaptive behaviors in HFASD and DSLDs groups. Both children with HFASD and DSLDs demonstrated impairments in verbal comprehension and executive functions. Processing speed and working memory were the predominant defects of children with HFASD and DSLDs in the field of executive functions, respectively. Whereas perceptual reasoning was a relative strength for them. Children with DSLDs had balanced scores of all the domains in ABAS-II; nevertheless, HFASD individuals demonstrated striking impairments in Social domain. Correlation analysis showed IQs of children with HFASD were positively correlated with all the domains and General Adaptive Composite (GAC) of ABAS-II. Additionally, IQs were positively correlated with Conceptual domain and GAC for children with DSLDs. Compared with DSLDs group, intelligence displayed stronger correlations with adaptive behaviors in HFASD group. Our study expanded insights regarding intelligence profiles and adaptive behaviors of children with HFASD and DSLDs. Moreover, this study made breakthroughs in discovering positive correlations between IQs and adaptive functions in the two neurodevelopmental disorders.

Impact of Ocular Conditions and Improvements After Refractive Surgery in Quality of Life for Children With Neurodevelopmental Disorders

This study aims to characterize the eye-related quality of life of children with neurodevelopmental and ocular disorders at baseline and after refractive surgery. Prospective interventional case series. We enrolled children and adolescents 5 to 18 of age with neurodevelopmental disorders undergoing refractive surgery (6 for pre-/postsurgical assessment and 14 for baseline analysis). Eye-related quality of life was measured using the Pediatric Eye Questionnaire (PedEyeQ). Baseline levels of adaptive functioning and social behaviors were measured using the Adaptive Behavioral Assessment System (ABAS-3) and Social Responsiveness Scale (SRS-2). We assessed the correlation between baseline PedEyeQ scores, number of ocular comorbidities, magnitude of refractive error, and ABAS-3 and SRS-2 scores. At baseline, 14 patients demonstrated decreased median eye-related quality of life (<60/100) in 5 of 9 PedEyeQ domains, moderate deficiencies in social behaviors (SRS-2 median 71, range 49-90), and low adaptive functioning (ABAS-3 median percentile for age of 0.100). Baseline PedEyeQ scores did not correlate with magnitude of refractive error or adaptive functioning scores but did correlate with number of ocular comorbidities and social behavior scores. Six patients have undergone refractive surgery without complication. Postoperatively, 11 of 11 eyes were within ±1.5 diopters spherical equivalent. Four of 6 patients exhibited clinically significant improvements in PedEyeQ scores after surgery. Even in the presence of significant social and adaptive impairments, quality of life in children with neurodevelopmental disorders is decreased by ocular disorders. Refractive surgery is associated with clinically significant improvements in eye-related quality of life.

Mental health and adaptive functioning among school-aged children living with HIV in Zambia.

BackgroundThe number of children living with HIV (CLWHIV) has been increasing, reflected by lower mortality. However, this change is coupled with higher rates of morbidity, where CLWHIV face considerable challenges, including neurocognitive delays and mental health and behavioral functioning challenges. Despite Sub-Sahara accounting for the highest number of CLWHIV, there is still limited research on the effects of HIV on child mental health and adaptive functioning.MethodMental health and adaptive functioning were assessed in 120 children. The sample included 62 CLWHIV and 58 demographically-matched HIV-uninfected children aged 6–12 years. Mental health was assessed using the Connors, while adaptive functioning was assessed using the Vineland Adaptive Behavioral Scale (VABS).ResultsScores obtained were within average ranges for mental health (T-score 40–59) and adaptive functioning standard scores (70–115). However, CLWHIV had significantly higher mental health problems than uninfected children in executive functioning and aggressiveness (p < 0.05). CLWHIV had lower adaptive functioning scores on the VABS Communication domain although these differences were not significant. In the Daily Living Skills domain, CLWHIV had significantly higher scores than the HIV-uninfected children (p < 0.05). There were no significant differences in the Socialization subdomain. Furthermore, CLWHIV had significantly higher scores on the Maladaptive Behavior scales of the VABS' internalizing and externalizing subdomains.ConclusionChallenges to mental health and adaptive functioning are still pervasive among CLWHIV. These findings support the need to develop support mechanisms for CLWHIV to help address mental health and adaptive functioning problems, especially as they progress into adolescence.

Fetal Brain Volume Predicts Neurodevelopment in Congenital Heart Disease.

Neurodevelopmental impairment is common in children with congenital heart disease (CHD), but postnatal variables explain only 30% of the variance in outcomes. To explore whether the antecedents for neurodevelopmental disabilities might begin in utero, we analyzed whether fetal brain volume predicted subsequent neurodevelopmental outcome in children with CHD. Fetuses with isolated CHD and sociodemographically comparable healthy control fetuses underwent fetal brain magnetic resonance imaging and 2-year neurodevelopmental evaluation with the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) and the Adaptive Behavior Assessment System, Third Edition (ABAS-3). Hierarchical regression evaluated potential predictors of Bayley-III and ABAS-3 outcomes in the CHD group, including fetal total brain volume adjusted for gestational age and sex, sociodemographic characteristics, birth measures, and medical history. The CHD group (n=52) had lower Bayley-III cognitive, language, and motor scores than the control group (n=26), but fetal brain volumes were similar. Within the CHD group, larger fetal total brain volume correlated with higher Bayley-III cognitive, language, and motor scores and ABAS-3 adaptive functioning scores (r=0.32-0.47; all P<0.05), but this was not noted in the control group. Fetal brain volume predicted 10% to 21% of the variance in neurodevelopmental outcome measures in univariate analyses. Multivariable models that also included social class and postnatal factors explained 18% to 45% of the variance in outcome, depending on developmental domain. Moreover, in final multivariable models, fetal brain volume was the most consistent predictor of neurodevelopmental outcome across domains. Small fetal brain volume is a strong independent predictor of 2-year neurodevelopmental outcomes and may be an important imaging biomarker of future neurodevelopmental risk in CHD. Future studies are needed to support this hypothesis. Our findings support inclusion of fetal brain volume in risk stratification models and as a possible outcome in fetal neuroprotective intervention studies.

Pediatric hemispherectomy outcome: Adaptive functioning, intelligence, and memory

ObjectiveOur purpose was to characterize neuropsychological evaluation (NP) outcome following functional hemispherectomy in a large, representative cohort of pediatric patients. MethodsWe evaluated seizure and NP outcomes and medical variables for all post-hemispherectomy patients from Seattle Children’s Hospital epilepsy surgery program between 1996 and 2020. Neuropsychological evaluation outcome tests used were not available on all patients due to the diversity of patient ages and competency that is typical of a representative pediatric cohort; all patients had at least an adaptive functioning or intelligence measure, and a subgroup had memory testing. ResultsA total of 71 hemispherectomy patients (37 right; 34 females) yielded 66 with both preoperative (PREOP) plus postoperative (POSTOP) NPs and 5 with POSTOP only. Median surgery age was 5.7 (IQR 2–9.9) years. Engel classification indicated excellent seizure outcomes: 59 (84%) Class I, 6 (8%) Class II, 5 (7%) Class III, and 1 (1%) Class IV. Medical variables – including seizure etiology, surgery age, side, presurgical seizure duration, unilateral or bilateral structural abnormalities, secondarily generalized motor seizures – were not associated with either Engel class or POSTOP NP scores, though considerable heterogeneity was evident. Median PREOP and POSTOP adaptive functioning (PREOP n = 45, POSTOP n = 48) and intelligence (PREOP n = 29, POSTOP n = 36) summary scores were exceptionally low and did not reveal group decline from PREOP to POSTOP. Fifty-five of 66 (85%) cases showed stability or improvement. Specifically, 5 (8%) improved; 50 (76%) showed stability; and 11 (16%) declined. Improve and decline groups showed clinically interesting, but not statistical, differences in seizure control and age. Median memory summary scores were low and also showed considerable heterogeneity. Overall median PREOP to POSTOP memory scores (PREOP n = 16, POSTOP n = 24) did not reveal declines, and verbal memory scores improved. Twenty six percent of intelligence and 33% of memory tests had verbal versus visual-spatial discrepancies; all but one favored verbal, regardless of hemispherectomy side. SignificanceThis large, single institution study revealed excellent seizure outcome in 91% of all 71 patients plus stability and/or improvement of intelligence and adaptive functioning in 85% of 66 patients who had PREOP plus POSTOP NPs. Memory was similarly stable overall, and verbal memory improved. Medical variables did not predict group NP outcomes though heterogeneity argues for further research. This study is unique for cohort size, intelligence plus memory testing, and evidence of primacy of verbal over visual-spatial development, despite hemispherectomy side. This study reinforces the role of hemispherectomy in achieving good seizure outcome while preserving functioning.

Investigating associations between birth order and autism diagnostic phenotypes.

Birth order effects have been linked to variability in intelligence, educational attainment and sexual orientation. First- and later-born children have been linked to an increased likelihood of an Autism Spectrum Disorder (ASD) diagnosis, with a smaller body of evidence implicating decreases in cognitive functioning with increased birth order. The present study investigated the potential association between birth order and ASD diagnostic phenotypes in a large and representative population sample. Data were obtained from an ongoing prospective diagnostic registry, collected between 1999 and 2017, including children (1-18years of age, n=5,404) diagnosed with ASD in the state of Western Australia. Children with ASD were ranked relative to sibling's birth to establish birth order within families at time of ASD diagnosis. Information reported to the registry by health professionals at the time of diagnostic evaluation included demographic and family characteristics, functional abilities and intellectual capacity. Adaptive functioning and intelligence scores decreased with increasing birth order, with later-born children more likely to have an intellectual disability. Compared to first-born children with siblings, first-born children without siblings at the time of diagnosis also exhibited decreased cognitive functioning. These findings demonstrate for the first time an association between increasing birth order and variability in ASD clinical phenotypes at diagnosis, with potential evidence of reproductive curtailment in children without siblings. Taken together, these findings have significant implications for advancing understanding about the potential mechanisms that contribute to heterogeneity in ASD clinical presentations as a function of birth order and family size.

No Free, Appropriate, Public Education for Most Neuropsychologically Referred Outpatients

The current study arose out of the observation that children and teens were being referred for outpatient neuropsychological assessment because the public schools were not addressing parents’ concerns. These youngsters were identified for placement in special education based on “Speech or Language Impairment” or “Specific Learning Disability,” only to be found through neuropsychological assessment to have full-scale IQs at or below 70, raising questions about why these youngsters were not made eligible for special education based on “Intellectual Disability.” Another concern was that many of these neuropsychologically referred youngsters may not be receiving services whatsoever within the public schools. The sample comprised a total of 363 English-speaking participants from the border area of New Mexico and Texas, between the ages of 6 and 20 years, all of whom were referred for outpatient, clinical neuropsychological assessment. Dependent variables included full-battery IQ, adaptive functioning, and executive functioning. Many participants had never been identified for placement in special education and yet were found to have full-scale IQs in the borderline intellectual functioning range (i.e., 71 to 84) accompanied by significantly lower adaptive functioning scores, compared with what is normal on a national level. Additionally, 152 participants (41.9% of the entire sample) had a full-scale IQ of 84 or lower but had never been identified by the schools as needing special education. These results pose challenges to public schools receiving federal funding, given their mandate to provide students with a free, appropriate, public education.

Using latent class analysis to identify treatment-use subgroups among parents of children with autism spectrum disorder.

Among parents of 2,582 children (ages 4-17 years old) with autism spectrum disorder (ASD), we used latent class analysis to identify subgroups and profiles of treatment users and included annual household income in the specification of the models, then described characteristics of each subgroup. Based on three indicators of fit (Akaike's Information Criterion, Bayesian Information Criterion, and Lo-Mendell-Rubin), six latent classes of treatment users emerged. Subgroups included users of: (a) mostly private and school speech and occupational therapies; (b) nearly all treatment types; (c) mostly speech and occupational therapies, plus intensive behavioral and "other" treatments, but little medication use; (d) private therapies almost exclusively; (e) primarily psychotropic medications; and (f) mostly school-based therapies. Income significantly predicted class differences for all but one latent class. Probabilities of families' lifetime use of nine treatment types varied depending on latent classification. Proportions of families reporting having observed children's developmental regression were largest in those with the highest overall treatment use, and these children also had the lowest cognitive and adaptive-functioning scores and the highest ASD symptom scores. Understanding patterns of treatment use among families of children with ASD is an important first step in enhancing treatment-related selection and implementation. Autism Research 2019, 12: 843-854. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: We identified six different groups of treatment users to help explain patterns in treatment implementation among parents of children and adolescents with autism. These included families who used: (a) mostly used private and school speech and occupational therapies; (b) nearly all treatment types (private and school therapies, intensive behavioral, biomedical, psychotropic medications, and other treatments); (c) mostly speech and occupational therapies, plus intensive behavioral and "other" treatments, but little medication use; (d) private therapies almost exclusively; (e) primarily psychotropic medications; and (f) mostly school-based therapies.

Adaptive functioning in children with neurofibromatosis type 1: relationship to cognition, behavior, and magnetic resonance imaging.

To characterize the adaptive behavior profile of children with neurofibromatosis type 1 (NF1) and determine its relationship to neuropsychological functioning and non-neoplastic T2-weighted hyperintense brain lesions on brain magnetic resonance imaging (MRI). In this cross-sectional study, we retrospectively reviewed neuropsychological reports from 104 children with NF1 (56 males, 48 females; mean age 10y 4mo; standard deviation [SD] 3y 4mo; range 3y 5mo-17y 6mo), and extracted data from a range of cognitive and behavioral measures, including the Adaptive Behavior Assessment System (ABAS). Brain MRI was retrospectively reviewed in 42 individuals. Adaptive Behavior Assessment System scores were continuously distributed and pathologically shifted by 0.79 to 1.26SD across Conceptual, Social, and Practical domains, and 46.5% of individuals had a composite score in the borderline or impaired range. Impairment in adaptive functioning was correlated with deficits in executive function (r=-9.543, p<0.001), externalizing problems (r=-0.366, p<0.001), and attention (r=-9.467, p=0.001). Cluster analysis revealed three distinct phenotypic subgroups, one of which exhibited normal cognitive ability, but impaired adaptive functioning, with persistent deficits in executive function, behavioral problems, and attention-deficit/hyperactivity disorder symptomatology. There was no relationship between ABAS scores and the number or location of unidentified bright objects. Adaptive functioning deficits are common among children with NF1 and are associated with impairment in other cognitive/behavioral domains, independent of general cognitive ability. Deficits in adaptive behavior are common in children with neurofibromatosis type 1 (NF1). Poor adaptive functioning is associated with impairments in executive function, externalizing behaviors, and attention, regardless of cognitive ability. The presence or location of unidentified bright objects do not predict adaptive behavior skills in children with NF1.

Longitudinal identification of clinically distinct neurophenotypes in young children with fragile X syndrome

Fragile X syndrome (FXS), due to mutations of the FMR1 gene, is the most common known inherited cause of developmental disability. The cognitive, behavioral, and neurological phenotypes observed in affected individuals can vary considerably, making it difficult to predict outcomes and determine the need for interventions. We sought to examine early structural brain growth as a potential marker for identification of clinically meaningful subgroups. Participants included 42 very young boys with FXS who completed a T1-weighted anatomical MRI and cognitive/behavioral assessment at two longitudinal time points, with mean ages of 2.89 y and 4.91 y. Topological data analysis (TDA), an unsupervised approach to multivariate pattern analysis, was applied to the longitudinal anatomical data to identify coherent but heretofore unknown subgroups. TDA revealed two large subgroups within the study population based solely on longitudinal MRI data. Post hoc comparisons of cognition, adaptive functioning, and autism severity scores between these groups demonstrated that one group was consistently higher functioning on all measures at both time points, with pronounced and significant unidirectional differences (P < 0.05 for time point 1 and/or time point 2 for each measure). These results support the existence of two longitudinally defined, neuroanatomically distinct, and clinically relevant phenotypes among boys with FXS. If confirmed by additional analyses, such information may be used to predict outcomes and guide design of targeted therapies. Furthermore, TDA of longitudinal anatomical MRI data may represent a useful method for reliably and objectively defining subtypes within other neuropsychiatric disorders.

The transgenerational transmission of refugee trauma: family functioning and children’s psychosocial adjustment

PurposeThe purpose of this paper is to explore the role of family functioning in the transgenerational transmission of trauma in a sample of 30 refugee families with traumatized parents and children without a history of direct trauma exposure from the Middle East.Design/methodology/approachBased on qualitative analyses of interview material, families were evaluated using theoretically derived dimensions of family functioning and placed in descriptive categories according to family cohesion, family flexibility, family roles, family coping, stressor pile-up, and marital problems. The association between these descriptive categories of family functioning and the child’s mental health as measured by the Strengths and Difficulties Questionnaire (SDQ) was explored using point-biserial correlations, correlations, and multiple regression analyses.FindingsIn all, 22 percent of the variance in children’s SDQ scores could be predicted by whether or not the family experienced a pile-up of stressors and whether or not the family was characterized by role reversal between parents and children. Furthermore, a statically significant association was established between a total measure of adaptive family functioning and lower scores on the SDQ.Originality/valueThese findings suggest that the transgenerational transmission of trauma may be associated with family functioning and have implications for interventions at several levels.

Continuity and Change in, and Child Predictors of, Caregiver Reported Anxiety Symptoms in Young People with Autism Spectrum Disorder: A Follow-Up Study.

Little is known about continuity, change and predictors of anxiety in ASD. This follow-up study investigated changes in caregiver-reported anxiety in 54 non-referred youth with ASD after 10-19 months. Earlier child predictors of later anxiety were also examined. Anxiety scores were generally stable. Time 1 ASD repetitive behavior symptoms, but not social/communication symptoms, predicted Time 2 total anxiety scores, over and above child age, gender and adaptive functioning scores, but this predictive relationship was fully mitigated by Time 1 anxiety scores when these were included as a covariate in the regression model. Exploring bi-directionality between autism and anxiety symptomatology, Time 1 anxiety scores did not predict Time 2 ASD symptoms. Preliminary clinical implications and possible future directions are discussed.

General Adaptive Functioning in Survivors of Childhood Acute Lymphoblastic Leukemia

Continuous advancement in treatment strategies for childhood acute lymphoblastic leukemia (ALL) have improved survival rates markedly over the past decades. The overall 5-year survival rate is now approaches 90% for survivors treated with contemporary therapies that include central nervous system (CNS)-directed chemotherapy and intensified systemic chemotherapy. Late effects however, including neurocognitive deficits and osteonecrosis may present lifelong consequences for survivors. Children’s Oncology Group (COG) protocol AALL0232 examined survival outcomes using a 2 x 2 factorial design that included randomizations for dexamethasone versus prednisone; and high dose methotrexate with leucovorin rescue versus escalating-dose methotrexate with PEG asparaginase. This study aims to describe the academic achievement and general adaptive functioning of patients treated on this protocol. We aim to identify demographic, clinical, and treatment factors that are associated with risk for adverse academic achievement and adaptive functional outcomes. We hypothesize that children diagnosed at younger ages (<10 years) will demonstrate more academic achievement difficulties than older children (≥ 10 years old). In patients ≥ 10 at diagnosis we hypothesize that older children will show evidence of greater adaptive difficulties. Additionally, we will explore differences between scores based on treatment regimen and insurance status.Methods: Patients with ALL, treated on COG AALL0232 protocol were identified and approached to participate on AALL06N1, a companion study designed to assess psychological outcomes. Of the 1386 children enrolled on the COG trial eligible for AALL06N1, general adaptive functioning data from 175 participants 8-24 months following completion of therapy were collected. Of these, 45.1% of the participants received dexamethasone and 54.9% prednisone; 48.6% received high dose MTX and 51.4% received escalating dose MTX. Participants were an average of 14.0 months off therapy, and had a mean age of 12.5 years (SD = 5.0 years) at the time of assessment. About 57% of participants had US Private or Military Insurance (Table 1).The Wide Range Achievement Test-IV (WRAT-IV; Wilkinson & Robertson, 2006) was used to assess academic achievement in reading, mathematics, and spelling. The Adaptive Behavior Assessment System II (ABAS-II; Harrison, 2003) is a parent-report measure of adaptive functioning. It results in three Adaptive Domain Scores (Conceptual, Social, Practical) and an overall General Adaptive Composite (GAC). All scores were age standardized.Results: Mean scores for both academic achievement and adaptive functional outcomes were in the average range for all participants (Table 2). Younger children (< 10 years) performed more poorly on Spelling relative to older children (> 10 years). On general adaptive functioning, all mean scores were in the average range with no significant differences between age groups. Participants with private or military insurance had significantly higher academic achievement and adaptive functioning scores in comparison to public, non-US, and other insurances (Table 3). No significant differences were detected based on type of steroid or delivery of MTX (Table 4).Discussion: On widely used measures of academic achievement and adaptive functioning, mean overall scores were in the average range among children treated for ALL. Consistent with a priori hypothesis, the observed academic achievement of younger children was slightly lower for reading and math than for older children, but was only significantly lower for spelling. Our second hypothesis was not supported as there were no significant differences between age groups on adaptive functioning. Participant scores were not dependent on treatment arm; however, insurance status was significantly associated with academic and adaptive functioning scores, particularly for participants with private/military insurance compared to the US public. These results suggest that academic achievement and adaptive functioning in survivors of childhood ALL are, on average, not different from population norms and remain in the average range, despite neurotoxic treatments. Future work needs to follow these trajectories longitudinally to ensure that more significant late effects do not emerge over time. [Display omitted] [Display omitted] [Display omitted] DisclosuresNo relevant conflicts of interest to declare.

SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome.

Background and PurposeDravet syndrome is a rare and severe type of epilepsy in infants. The heterogeneity in the overall intellectual disability that these patients suffer from has been attributed to differences in genetic background and epilepsy severity.MethodsEighteen Vietnamese children diagnosed with Dravet syndrome were included in this study. SCN1A variants were screened by direct sequencing and multiplex ligation-dependent probe amplification. Adaptive functioning was assessed in all patients using the Vietnamese version of the Vineland Adaptive Behavior Scales, and the results were analyzed relative to the SCN1A variants and epilepsy severity.ResultsWe identified 13 pathogenic or likely pathogenic variants, including 6 that have not been reported previously. We found no correlations between the presence or type of SCN1A variants and the level of adaptive functioning impairment or severity of epilepsy. Only two of nine patients aged at least 5 years had an adaptive functioning score higher than 50. Both of these patients had a low frequency of convulsive seizures and no history of status epilepticus or prolonged seizures. The remaining seven had very low adaptive functioning scores (39 or less) despite the variability in the severity of their epilepsy confirming the involvement of factors other than the severity of epilepsy in determining the developmental outcome.ConclusionsOur study expands the spectrum of known SCN1A variants and confirms the current understanding of the role of the genetic background and epilepsy severity in determining the developmental outcome of Dravet syndrome patients.

Mid-childhood outcomes of infant siblings at familial high-risk of autism spectrum disorder.

Almost 20% of infants with an older sibling with autism spectrum disorder (ASD) exhibit ASD themselves by age 3 years. The longer‐term outcomes of high‐risk infants are less clear. We examined symptoms of ASD, attention‐deficit/hyperactivity disorder (ADHD) and anxiety, language, IQ, and adaptive behaviour at age 7 years in high‐ and low‐risk children prospectively studied since the first year of life. Clinical outcomes were compared between high‐risk children who met diagnostic criteria for ASD at age 7 (HR‐ASD‐7 group, n = 15), high‐risk children without ASD (HR‐Non‐ASD‐7 group, n = 24), and low‐risk control children (LR group, n = 37). Diagnostic stability between age 3 and 7 years was moderate, with five children who did not meet diagnostic criteria for ASD at age 3 years being assigned the diagnosis at age 7, and three children showing the opposite pattern. The HR‐ASD‐7 group showed elevated ADHD and anxiety symptoms and had lower adaptive behaviour scores than LR controls. The HR‐Non‐ASD‐7 group had higher repetitive behaviour, lower adaptive functioning and elevated scores on one anxiety subscale (Separation Anxiety) compared to LR controls, but evidence for subclinical ASD symptoms (the broader autism phenotype, BAP) was limited in the group as a whole, although we identified a subgroup with elevated ASD traits. The difficulties experienced by high‐risk siblings at school‐age extend beyond ASD symptoms. The pattern of difficulties exhibited by the HR‐ASD‐7 group may inform our understanding of developmental trajectories of co‐occurring psychopathology in ASD. Autism Res 2017, 10: 546–557. © The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research

Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.

Triple X syndrome (47, XXX) occurs in approximately 1:1,000 female births and has a variable phenotype of physical and psychological features. Prenatal diagnosis rates of 47, XXX are increasing due to non-invasive prenatal genetic testing. Previous studies suggest that prenatal diagnosed females have better neurodevelopmental outcomes. This cross-sectional study describes diagnosis, physical features, medical problems, and neurodevelopmental features in a large cohort of females with 47, XXX. Evaluation included review of medical and developmental history, physical exam, cognitive, and adaptive testing. Medical and developmental features were compared between the prenatal and postnatal diagnosis groups using rate calculations and Fisher's exact test. Cognitive and adaptive tests scores were compared using t-tests. Seventy-four females age 6 months-24 years (mean 8.3 years) participated. Forty-four (59.5%) females were in the prenatal diagnosis group. Mean age of postnatal diagnosis was 5.9 years; developmental delay was the most common indication for postnatal genetic testing. Common physical features included hypertelorism, epicanthal folds, clinodactyly, and hypotonia. Medical problems included dental disorders (44.4%), seizure disorders (16.2%), genitourinary malformations (12.2%). The prenatal diagnosis group had higher verbal (P < 0.001), general ability index (P = 0.004), and adaptive functioning scores (P < 0.001). Rates of ADHD (52.2% vs. 45.5%, P = 0.77) and learning disabilities (39.1% vs. 36.3%, P = 1.00) were similar between the two groups. These findings expand on the phenotypic features in females with Triple X syndrome and support that prenatally ascertained females have better cognitive and functional outcomes. However, prenatally diagnosed females are still at risk for neurodevelopmental disorders. Genetic counseling and treatment recommendations are summarized. © 2016 Wiley Periodicals, Inc.