Stephen M. Kanne

The Role of Adaptive Behavior in Autism Spectrum Disorders: Implications for Functional Outcome

The relationship between adaptive functioning and autism symptomatology was examined in 1,089 verbal youths with ASD examining results on Vineland-II, IQ, and measures of ASD severity. Strong positive relationships were found between Vineland subscales and IQ. Vineland Composite was negatively associated with age. IQ accounted a significant amount of the variance in overall adaptive skills (55%) beyond age and ASD severity. Individuals with ASD demonstrated significant adaptive deficits and negligible associations were found between the level of autism symptomatology and adaptive behavior. The results indicate that IQ is a strong predictor of adaptive behavior, the gap between IQ and adaptive impairments decreases in lower functioning individuals with ASD, and older individuals have a greater gap between IQ and adaptive skills.

Aggression in Children and Adolescents with ASD: Prevalence and Risk Factors

The prevalence of and risk factors for aggression were examined in 1,380 children and adolescents with autism spectrum disorders (ASD). Prevalence was high, with parents reporting that 68% had demonstrated aggression to a caregiver and 49% to non-caregivers. Overall, aggression was not associated with clinician observed severity of ASD symptoms, intellectual functioning, gender, marital status, parental educational level, or aspects of communication. Individuals who are younger, come from a higher income family, have more parent reported social/communication problems, or engage in repetitive behaviors were more likely to demonstrate aggression. Given the significant impact of aggression on individual and family outcomes, it is hoped that this knowledge will inform more targeted intervention efforts.

Friendship and Internalizing Symptoms Among Children and Adolescents with ASD

Anxiety and depression are common among children and adolescents with autism spectrum disorders (ASD), highlighting a need to identify factors that protect against these symptoms. Among typically developing children, friendships are protective, and lead to better emotional outcomes. The current study examined a large, well-characterized sample of children and adolescents with ASD to examine the relations among friendship, ASD symptom severity, and anxiety/depression. Rates of anxiety/depression were high in this sample. Greater ASD severity was associated with fewer symptoms of anxiety/depression, lower IQ, and poorer number and/or quality of reciprocal friendships. Surprisingly, children with no or very poor dyadic relationships experienced less anxiety than those with existing, but limited, friendships. Implications and directions for future research are discussed.

The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population

BACKGROUND Deletion of the recurrent ~600 kb BP4-BP5 chromosomal region 16p11.2 has been associated with a wide range of neurodevelopmental outcomes. METHODS To clarify the phenotype of 16p11.2 deletion, we examined the psychiatric and developmental presentation of predominantly clinically referred individuals, with a particular emphasis on broader autism phenotype characteristics in individuals with recurrent ~600 kb chromosome 16p11.2 deletions. Using an extensive standardized assessment battery across three clinical sites, 85 individuals with the 16p11.2 deletion and 153 familial control subjects were evaluated for symptom presentation and clinical diagnosis. RESULTS Individuals with the 16p11.2 deletion presented with a high frequency of psychiatric and developmental disorders (>90%). The most commonly diagnosed conditions were developmental coordination disorder, phonologic processing disorder, expressive and receptive language disorders (71% of individuals >3 years old with a speech and language-related disorder), and autism spectrum disorder. Individuals with the 16p11.2 deletion not meeting diagnostic criteria for autism spectrum disorder had a significantly higher prevalence of autism-related characteristics compared with the familial noncarrier control group. Individuals with the 16p11.2 deletion had a range of intellectual ability, but IQ scores were 26 points lower than noncarrier family members on average. CONCLUSIONS Clinically referred individuals with the 16p11.2 deletion have high rates of psychiatric and developmental disorders and provide a genetically well-defined group to study the emergence of developmental difficulties, particularly associated with the broader autism phenotype.

Psychiatric Symptoms and Psychosocial Difficulties in Young Adults with Autistic Traits

A screening version of the social responsiveness scale (SRS) was administered to 1,847 university students to identify a subgroup reporting significantly greater autism traits relative to their peers (High SRS group). A group reporting minimal autism traits was also identified (Low SRS group) matched for age, gender, and attentional difficulties. We administered the Behavioral Assessment System for Children—2nd edition (BASC-2), a comprehensive questionnaire designed to assess psychiatric symptoms and personality characteristics, to both groups. The high SRS group reported significantly more difficulties across the majority of areas, including depression/anxiety, interpersonal relationships, and personal adjustment. Thus, young adults reporting a greater degree of autistic traits also reported greater psychiatric difficulties across a wide psychosocial range.

Memory functioning following traumatic brain injury in children with premorbid learning problems.

This study examines the memory functioning of 25 children who sustained a traumatic brain injury (TBI) and who had prior learning problems, 48 children with TBI who did not have prior learning problems, and 23 noninjured controls. The children with TBI and prior learning problems displayed significantly worse memory abilities than both the control participants and the children with TBI and no prior learning problems. They differed significantly from these 2 groups on measures of general memory, verbal memory, sound-symbol learning, and attention. The results suggest that children with premorbid learning problems who sustain TBI have less cognitive reserve and a lower threshold for the expression of cognitive impairments in areas that reflect preexisting learning and language problems, compared to children without premorbid learning problems.

Clinical phenotype of the recurrent 1q21.1 copy-number variant

Purpose:To characterize the clinical phenotype of the recurrent copy-number variation (CNV) at 1q21.1, we assessed the psychiatric and medical phenotypes of 1q21.1 deletion and duplication carriers ascertained through clinical genetic testing and family member cascade testing, with particular emphasis on dimensional assessment across multiple functional domains.Methods:Nineteen individuals with 1q21.1 deletion, 19 individuals with the duplication, and 23 familial controls (noncarrier siblings and parents) spanning early childhood through adulthood were evaluated for psychiatric, neurologic, and other medical diagnoses, and their cognitive, adaptive, language, motor, and neurologic domains were also assessed. Twenty-eight individuals with 1q21.1 CNVs (15 deletion, 13 duplication) underwent structural magnetic resonance brain imaging.Results:Probands with 1q21.1 CNVs presented with a range of psychiatric, neurologic, and medical disorders. Deletion and duplication carriers shared several features, including borderline cognitive functioning, impaired fine and gross motor functioning, articulation abnormalities, and hypotonia. Increased frequency of Autism Spectrum Disorder (ASD) diagnosis, increased ASD symptom severity, and increased prevalence of macrocephaly were observed in the duplication relative to deletion carriers, whereas reciprocally increased prevalence of microcephaly was observed in the deletion carriers.Conclusions:Individuals with 1q21.1 deletions or duplications exhibit consistent deficits on motor and cognitive functioning and abnormalities in head circumference.Genet Med 18 4, 341–349.

Comprehensive Comparison of Self-administered Questionnaires for Measuring Quantitative Autistic Traits in Adults

We comprehensively compared all available questionnaires for measuring quantitative autistic traits (QATs) in terms of reliability and construct validity in 3,147 non-clinical and 60 clinical subjects with normal intelligence. We examined four full-length forms, the Subthreshold Autism Trait Questionnaire (SATQ), the Broader Autism Phenotype Questionnaire, the Social Responsiveness Scale2-Adult Self report (SRS2-AS), and the Autism-Spectrum Quotient (AQ). The SRS2-AS and the AQ each had several short forms that we also examined, bringing the total to 11 forms. Though all QAT questionnaires showed acceptable levels of test–retest reliability, the AQ and SRS2-AS, including their short forms, exhibited poor internal consistency and discriminant validity, respectively. The SATQ excelled in terms of classical test theory and due to its short length.

Diagnostic and Assessment Findings: A Bridge to Academic Planning for Children with Autism Spectrum Disorders

Increasing numbers of children diagnosed and treated for autism spectrum disorders (ASDs) has impacted both neuropsychologists and educators. Though both play key evaluative and treatment roles, there is no available method or process in place enabling the translation of the neuropsychological report recommendations into a format educational teams can easily use, leading to a gap between neuropsychological recommendations and educational planning. In the following, we review the areas evaluated by a neuropsychologist when assessing a child with an ASD, discuss the domains targeted by educational teams when designing an educational plan, and then present a process that has met with some success creating a “bridge” between the diagnostic/assessment process and the subsequent academic planning. Though presented in the context of ASD, the process described can be used by neuropsychologists for various populations to facilitate partnerships with educators that result in improved care for the child.

Effect of Propranolol on Word Fluency in Autism

Objective and BackgroundAutism is characterized by repetitive behaviors and impaired socialization and communication. Preliminary evidence showed possible language benefits in autism from the &bgr;-adrenergic antagonist propranolol. Earlier studies in other populations suggested propranolol might benefit performance on tasks involving a search of semantic and associative networks under certain conditions. Therefore, we wished to determine whether this benefit of propranolol includes an effect on semantic fluency in autism. MethodsA sample of 14 high-functioning adolescent and adult participants with autism and 14 matched controls were given letter and category word fluency tasks on 2 separate testing sessions; 1 test was given 60 minutes after the administration of 40 mg propranolol orally, and 1 test was given after placebo, administered in a double-blinded, counterbalanced manner. ResultsParticipants with autism were significantly impaired compared with controls on both fluency tasks. Propranolol significantly improved performance on category fluency, but not letter fluency among autism participants. No drug effect was observed among controls. Expected drug effects on heart rate and blood pressure were observed in both the groups. ConclusionsResults are consistent with a selective beneficial effect of propranolol on flexibility of access to semantic and associative networks in autism, with no observed effect on phonological networks. Further study will be necessary to understand potential clinical implications of this finding.