Beth L. Goodlin-Jones

The Amygdala Is Enlarged in Children But Not Adolescents with Autism; the Hippocampus Is Enlarged at All Ages

Autism is a neurodevelopmental disorder characterized by impairments in reciprocal social interaction, deficits in verbal and nonverbal communication, and a restricted repertoire of activities or interests. We performed a magnetic resonance imaging study to better define the neuropathology of autistic spectrum disorders. Here we report findings on the amygdala and the hippocampal formation. Borders of the amygdala, hippocampus, and cerebrum were defined, and their volumes were measured in male children (7.5-18.5 years of age) in four diagnostic groups: autism with mental retardation, autism without mental retardation, Asperger syndrome, and age-matched typically developing controls. Although there were no differences between groups in terms of total cerebral volume, children with autism (7.5-12.5 years of age) had larger right and left amygdala volumes than control children. There were no differences in amygdala volume between the adolescent groups (12.75-18.5 years of age). Interestingly, the amygdala in typically developing children increases substantially in volume from 7.5 to 18.5 years of age. Thus, the amygdala in children with autism is initially larger, but does not undergo the age-related increase observed in typically developing children. Children with autism, with and without mental retardation, also had a larger right hippocampal volume than typically developing controls, even after controlling for total cerebral volume. Children with autism but without mental retardation also had a larger left hippocampal volume relative to controls. These cross-sectional findings indicate an abnormal program of early amygdala development in autism and an abnormal pattern of hippocampal development that persists through adolescence. The cause of amygdala and hippocampal abnormalities in autism is currently unknown.

Autism Profiles of Males With Fragile X Syndrome.

Autism, which is common in individuals with fragile X syndrome, is often difficult to diagnose. We compared the diagnostic classifications of two measures for autism diagnosis, the ADOS and the ADI-R, in addition to the DSM-IV-TR in 63 males with this syndrome. Overall, 30% of the subjects met criteria for autistic disorder and 30% met criteria for PDD-NOS. The classifications on the ADOS and DSM-IV-TR were most similar, whereas the ADI-R classified subjects as autistic much more frequently. We further investigated the relationship of both FMRP and FMRI mRNA to symptoms of autism in this cohort and found no significant relationship between the measures of autism and molecular features, including FMRP, FMRI mRNA, and CGG repeat number.

Sleep problems in children with autism spectrum disorders, developmental delays, and typical development: a population-based study

This study compared parent‐reported sleep characteristics in 2‐ to 5‐year‐old children with autism spectrum disorders (ASD) to children with other developmental delays (DD) and typical development (TD). We included 529 children (303 ASD [167 males], 63 DD [46 males], and 163 TD [134 males]) enrolled in the CHARGE study, an ongoing population‐based case–control study. The mean age of participants was 3.6 years (standard deviation, 0.8 years). ASD diagnosis was confirmed with Autism Diagnostic Interview‐Revised (ADI‐R) and Autism Diagnostic Observation Schedules (ADOS). Cognitive and adaptive functioning was assessed using Mullen Scales of Early Learning (MSEL) and Vineland Adaptive Behavior Scales (VABS), respectively. Demographic, medical and sleep history information were ascertained from California birth records, telephone interview, medical assessments at clinic visit, and parent‐administered questionnaires. Fifty‐three percent of children with ASD had at least one frequent sleep problem, followed by 46% of children with DD, and 32% of the TD group (P < 0.0001). Exploratory factor analyses of sleep history data yielded two factors: sleep onset problems and night waking. Children with ASD had marginally higher sleep onset factor scores and significantly higher night waking factor scores compared with the TD group. Factor scores for children with DD were intermediate between the ASD and TD groups. Cognitive or adaptive development did not predict severity of sleep problems in the ASD group.

Evidence-Based Assessment of Autism Spectrum Disorders in Children and Adolescents

This article reviews evidence-based criteria that can guide practitioners in the selection, use, and interpretation of assessment tools for autism spectrum disorders (ASD). As Mash and Hunsley (2005) discuss in this special section, evidence-based assessment tools not only demonstrate adequate psychometric qualities, but also have relevance to the delivery of services to individuals with the disorder (see also Hayes, Nelson, & Jarrett, 1987). Thus, we use what is known about the symptoms, etiologies, developmental course, and outcome of ASD to evaluate the utility of particular assessment strategies and instruments for diagnosis, treatment planning and monitoring, and evaluation of outcome. The article begins with a review of relevant research on ASD. Next we provide an overview of the assessment process and some important issues that must be considered. We then describe the components of a core (minimum) assessment battery, followed by additional domains that might be considered in a more comprehensive assessment. Domains covered include core autism symptomatology, intelligence, language, adaptive behavior, neuropsychological functions, comorbid psychiatric illnesses, and contextual factors (e.g., parent well-being, family functioning, quality of life). We end with a discussion of how well the extant literature meets criteria for evidence-based assessments.

The Children's Sleep Habits Questionnaire in Toddlers and Preschool Children

Objective: Twenty to 40% of young children are reported to have behavioral insomnias of childhood. Concerns about sleep at these ages are the most common problem expressed to pediatricians at the time of well child visits. A screening questionnaire, the Childrens Sleep Habits Questionnaire (CSHQ), has been used in clinical settings and in research studies to assess children ages 4 to 10 for the presence of sleep problems. A CSHQ total score has distinguished clinical populations from community samples. Methods: The current study assesses the CSHQ in a younger age group than previously reported and in a diverse population. A total of 194 children, ages 2 to 5½ years, were recruited into 3 diagnostic groups: 68 children with autism, 57 children with developmental delay without autism, and 69 typically developing children. All childrens parents completed the CSHQ and a sleep log, and all children were studied for 7 days and nights with actigraphy. The children were divided into problem sleep and non-problem sleep groups on the basis of a parent report of a generic sleep problem at the time of entry into the study. The CSHQ responses for the problem and non-problem sleep groups were then compared. Results: The results suggest that the CSHQ is clinically useful for screening of sleep problems in typically developing children at these young ages as well as in children with diverse neurodevelopmental diagnoses. Conclusions: The somewhat higher subscale scores than previously reported for older children appear to be consistent with more sleep problems in younger children.

Sleep Patterns of Children with Pervasive Developmental Disorders

Data on sleep behavior were gathered on 100 children with pervasive developmental disorders (PDD), ages 2–11 years, using sleep diaries, the Childrens Sleep Habits Questionnaire (CSHQ), and the Parenting Events Questionnaire. Two time periods were sampled to assess short-term stability of sleep–wake patterns. Before data collection, slightly more than half of the parents, when queried, reported a sleep problem in their child. Subsequent diary and CSHQ reports confirmed more fragmented sleep in those children who were described by their parents as having a sleep problem compared to those without a designated problem. Interestingly, regardless of parental perception of problematic sleep, all children with PDD exhibited longer sleep onset times and greater fragmentation of sleep than that reported for age-matched community norms. The results demonstrate that sleep problems identified by the parent, as well as fragmentation of sleep patterns obtained from sleep diary and CSHQ data, exist in a significant proportion of children with PDD.

Child sexual abuse and adult revictimization with women of color

Clinical researchers examining the long-term consequences of child molestation have reported that female survivors of child sexual abuse experience a higher risk of sexual assault as adults. However, very little literature has focused on the child and/or adult sexual victimization of women from different ethnic or cultural backgrounds. In examining the long-term consequences of child sexual abuse, this investigation examined the rates of sexual revictimization of women of color. A multiethnic (white, African-American, Latina, and Asian-American) sample of 243 women, recruited and randomly selected from a pool of volunteers from two community colleges, were administered extensive clinical interviews. Nearly two thirds of the women who reported rape as an adult had a history of child sexual abuse, while approximately one third of the nonvictimized women had a child sexual abuse history. Additionally, an examination of the rates of adult rape within each ethnic group revealed differences between the women with and without a history of child sexual abuse. Significant differences (i.e., higher rates of rape associated with a prior history of child sexual abuse) were found for white women, African-American women, and Latinas, but not for Asian-American women. The results of this investigation highlight the relationship between child sexual abuse and adult rape and suggest the need for researchers to take a broader cultural context in which to view sexual victimization.

Autistic spectrum disorder and the fragile X premutation.

ABSTRACT. Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. It is also one of the most common identifiable causes of Autism Spectrum Disorder (ASD). Carriers of FXS are often considered to be cognitively and behaviorally unaffected. However, we report here on six individuals in the premutation range who also have ASD. A comparison is made with five subjects in the premutation range who did not receive a diagnosis of ASD. The six individuals with ASD had a range of cognitive ability levels from no impairment to moderate retardation. Discussion includes the impact of molecular variables including lowered FMR1 protein and elevated FMR1 mRNA in addition to environmental factors leading to the complex neurodevelopmental disorder of ASD.

The Prader-Willi phenotype of fragile X syndrome.

The Prader-Willi phenotype (PWP) of fragile X syndrome (FXS) is associated with obesity and hyperphagia similar to Prader-Willi syndrome (PWS), but without cytogenetic or methylation abnormalities at 15q11–13. Thirteen cases of PWP and FXS are reported here that were identified by obesity and hyperphagia. Delayed puberty was seen in 5 of 9 cases who had entered puberty, a small penis or testicles in seven of 13 cases, and infant hypotonia and/or a poor suck in seven of 13 cases. Autism spectrum disorder occurred in 10 of 13 cases, and autism was diagnosed in seven of 13 cases. We investigated cytoplasmic interacting FMR1 protein (CYFIP) expression, which is a protein that interacts with FMR1 protein (FMRP) because the gene for CYFIP is located at 15q11–13. CYFIP mRNA levels were significantly reduced in our patients with the PWP and FXS compared to individuals without FXS (p < .001) and also individuals with FXS without PWP (p = .03).

A comprehensive volumetric analysis of the cerebellum in children and adolescents with autism spectrum disorder

Magnetic resonance imaging (MRI) and postmortem neuropathological studies have implicated the cerebellum in the pathophysiology of autism. Controversy remains, however, concerning the nature and the consistency of cerebellar alterations. MRI studies of the cross‐sectional area of the vermis have found both decreases and no difference in autism groups. Volumetric analysis of the vermis, which is less prone to “plane of section artifacts” may provide a more reliable assessment of size differences but few such studies exist in the literature. Here we present the results of a volumetric analysis of the structure of the whole cerebellum and its components in children and adolescents with autism spectrum disorders. Structural MRIs were acquired from 62 male participants (7.5 to 18.5 years‐old) who met criteria for the following age‐matched diagnostic groups: low functioning autism, high functioning autism (HFA), Asperger syndrome, and typically developing children. When compared to controls, the midsagittal area of the vermis, or of subgroups of lobules, was not reduced in any of the autism groups. However, we did find that total vermis volume was decreased in the combined autism group. When examined separately, the vermis of only the HFA group was significantly reduced compared to typically developing controls. Neither IQ nor age predicted the size of the vermis within the autism groups. There were no differences in the volume of individual vermal lobules or cerebellar hemispheres. These findings are discussed in relation to the pathology of autism and to the fairly common alterations of vermal morphology in various neurodevelopmental disorders.