Sylvie Goldman

Motor stereotypies in children with autism and other developmental disorders

The purpose of the study was to count and characterize the range of stereotypies – repetitive rhythmical, apparently purposeless movements – in developmentally impaired children with and without autism, and to determine whether some types are more prevalent and diagnostically useful in children with autism. We described each motor stereotypy recorded during 15 minutes of archived videos of standardized play sessions in 277 children (209 males, 68 females; mean age 4y 6mo [SD 1y 5mo], range 2y 11mo–8y 1mo), 129 with autistic disorder (DSM‐III‐R), and 148 cognitively‐matched non‐autistic developmentally disordered (NADD) comparison children divided into developmental language disorder and non‐autism, low IQ (NALIQ) sub‐groups. The parts of the body involved and characteristics of all stereotypies were scored blind to diagnosis. More children with autism had stereotypies than the NADD comparison children. Autism and, to a lesser degree, nonverbal IQ (NVIQ) <80, especially in females contributed independently to the occurrence, number, and variety of stereotypies, with non‐autistic children without cognitive impairment having the least number of stereotypies and children with autism and low NVIQ the most. Autism contributed independently to gait and hand/finger stereotypies and NVIQ <80 to head/trunk stereotypies. Atypical gazing at fingers and objects was rare but virtually limited to autism. Stereotypies are environmentally modulated movement disorders, some highly suggestive, but not pathognomonic, of autism. Their underlying brain basis and genetic correlates need investigation.

Brief Report: Narratives of Personal Events in Children with Autism and Developmental Language Disorders: Unshared Memories

Narrative analysis of personal events provides an opportunity for identifying autism specific issues related to language and social impairments. Eight personal events were elicited from three groups of schoolage children: 14 high-functioning with Autism Spectrum Disorders (HFA), 12 non-autistic with developmental language disorders (DLD), and 12 typically developing matched for chronological age and non-verbal IQ. The coding focused on narrative format (constituents) and style (coherence). The analyses indicate basic knowledge of conventional narrative format in all groups but a consistent lack of high-point in HFA children’s stories interpreted as a consequence of their lack of social understanding of narrative. The results suggest novel interventions to foster autobiographical memory in HFA children which may assist in their self-awareness development.

Male predominance in autism: neuroendocrine influences on arousal and social anxiety

We offer a neurobiologic theory based on animal work that helps account for the conspicuous male predominance in autism spectrum disorders (ASD). In young male animals, testosterone (TST) binds to androgen receptors (AR) in brainstem neurons responsible for enhancing brain arousal. As a consequence, arousal‐related neurotransmitters bombard the amygdala hypersensitized by TST acting though AR. Arousal‐related inputs are known to prime amygdaloid mechanisms for fear and anxiety, with resultant social avoidance. We hypothesize that similar mechanisms contribute to autisms male predominance and to its defining impaired social skills. The theory rests on two key interacting factors: the molecular effects of TST in genetically vulnerable boys in combination with environmental stresses they experienced in utero, neonatally, or during the first years. We postulate that higher TST levels and, therefore, higher amounts of arousal‐related inputs to the amygdala sensitize these genetically vulnerable male infants to very early stresses. In sharp contrast to boys, girls not only do not have high levels of TST‐facilitated arousal‐causing inputs to the amygdala but they also enjoy the protection afforded by estrogenic hormones, oxytocin, and the oxytocin receptor. This theory suggests that novel technologies applied to the molecular endocrinology of TSTs actions through AR will offer new avenues of enquiry into ASD. Since the high male preponderance in autism is important yet understudied, we offer our theory, which is based on detailed neurobehavioral research with animals, to stimulate basic and clinical research in animals and humans and hopefully help develop novel more effective medical treatments for autism. Autism Res 2011,4:163–176.

Hand stereotypies distinguish Rett syndrome from autism disorder.

Rett syndrome (RTT) and autism disorder (AD) are 2 neurodevelopmental disorders of early life that share phenotypic features, one being hand stereotypies. Distinguishing RTT from AD often represents a challenge, and given their distinct long‐term prognoses, this issue may have far‐reaching implications. With the advances in genetic testing, the contribution of clinical manifestations in distinguishing RTT from AD has been overlooked.

The Brazilian CARS: a standardized screening tool for autism

Autism is not a disease. There is no blood test, neuroim-aging, or electroencephalography (EEG) test for making orconfirming this diagnosis. Autism is a behaviorally-definedsyndrome that denotes atypical development of the imma-ture brain and becomes manifest in late infancy, in toddlers,or young preschoolers. To the experienced clinician, classicautism is an obvious diagnosis. But expe-rience and expertise are not measurableandthereforedonotsufficewhenitcomesto enrolling children in research studies orconvincing a school district to provideexpensive specialized educational ser-vices, especially to a child who has not yetcelebrated his (or her) third birthday.The International Classification of Dis-eases (ICD-10)

Stereotypies in autism: a video demonstration of their clinical variability

In autism, stereotypies are frequent and disabling, and whether they correspond to a hyperkinetic movement disorder, a homeostatic response aiming at sensory modulation, or a regulator of arousal remains to be established. So far, it has been challenging to distinguish among these different possibilities, not only because of lack of objective and quantitative means to assess stereotypies, but in our opinion also because of the underappreciated diversity of their clinical presentations. Herein, we illustrate the broad spectrum of stereotypies and demonstrate the usefulness of video-assisted clinical observations of children with autism. The clips presented were extracted from play sessions of 129 children with autism disorder. We conclude that compared to widely used questionnaires and interviews, systematic video observations provide a unique means to classify and score precisely the clinical features of stereotypies. We believe this approach will prove useful to both clinicians and researchers as it offers the level of detail from retrievable images necessary to begin to assess effects of age and treatments on stereotypies, and to embark on the type of investigations required to unravel the physiological basis of motor behaviors in autism.