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February 11, 2015
Boston Connection February 2015

Tags: Boston Connection

Apraxia, autism, attention-deficit hyperactivity disorder: do we have a new spectrum?

Schumacher J, Strand KE, Augustyn M.

J Dev Behav Pediatr. 2015 Feb-Mar;36(2):124-6.

CASE: Gio is a bilingual 6-year 10-month-old boy new to your practice who presents for an unscheduled visit with concerns for speech and language delay. He was born in Portugal, and his native language is Portuguese. When he was 21 months old, his family moved to Italy and then moved to the United States 3 years later. He had very little contact with other children while living in Italy, but his parents report that he has made friends quickly in the United States. His family speaks Portuguese at home, although his father is fluent in English.He started school 3 months after moving to the United States and is currently repeating kindergarten. He is in a sheltered English classroom with several other students who speak Portuguese. He is able to understand and follow directions in English. A recent school evaluation revealed solidly average nonverbal reasoning skills and relative weaknesses in verbal reasoning and working memory. His speech is described as unintelligible in conversation, both in English and Portuguese.Results of a special education evaluation qualified him for services with a bilingual therapist. His teachers are very concerned that he may have autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD). They describe him as having limited interest in other children, poor eye contact, and hypersensitivities. He wanders at recess. He is very skilled at art and seems to prefer to draw rather than interact with others. He needs constant support and redirection throughout the school day. He has difficulty putting on his coat, using playground equipment, and following daily classroom routines. On the Vanderbilt Rating Scale, his teacher endorses 17 of 18 ADHD symptoms as present often or very often and significant impairment in his performance.Gio presents to your clinic as a relatable young boy with childhood apraxia of speech. Only his productions of single words and short routine phrases are intelligible. He attempts to engage in conversation but averts his gaze and becomes frustrated when asked to repeat things. Scores on the Parent Conners Rating Scale and Social Responsiveness Scale are not elevated. When you bring up school's concerns, his father describes feeling somewhat badgered by his teachers about possibility of ASD.School is considering placement in an inclusion classroom for children with ASD. What do you recommend? How would you advise his parents?

The Use of Sign Language Pronouns by Native-Signing Children with Autism.

Shield A1, Meier RP, Tager-Flusberg H.

J Autism Dev Disord. 2015 Feb 3.

We report the first study on pronoun use by an under-studied research population, children with autism spectrum disorder (ASD) exposed to American Sign Language from birth by their deaf parents. Personal pronouns cause difficulties for hearing children with ASD, who sometimes reverse or avoid them. Unlike speech pronouns, sign pronouns are indexical points to self and other. Despite this transparency, we find evidence from an elicitation task and parental report that signing children with ASD avoid sign pronouns in favor of names. An analysis of spontaneous usage showed that all children demonstrated the ability to point, but only children with better-developed sign language produced pronouns. Differences in language abilities and self-representation may explain these phenomena in sign and speech.

No Evidence for Association of Autism with Rare Heterozygous Point Mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.

Murdoch JD, Gupta AR, Sanders SJ, Walker MF, Keaney J, Fernandez TV, Murtha MT, Anyanwu S, Ober GT, Raubeson MJ, DiLullo NM, Villa N, Waqar Z, Sullivan C, Gonzalez L, Willsey AJ, Choe SY, Neale BM, Daly MJ, State MW.

PLoS Genet. 2015 Jan 26;11(1):e1004852.

Contactins and Contactin-Associated Proteins, and Contactin-Associated Protein-Like 2 (CNTNAP2) in particular, have been widely cited as autism risk genes based on findings from homozygosity mapping, molecular cytogenetics, copy number variation analyses, and both common and rare single nucleotide association studies. However, data specifically with regard to the contribution of heterozygous single nucleotide variants (SNVs) have been inconsistent. In an effort to clarify the role of rare point mutations in CNTNAP2 and related gene families, we have conducted targeted next-generation sequencing and evaluated existing sequence data in cohorts totaling 2704 cases and 2747 controls. We find no evidence for statistically significant association of rare heterozygous mutations in any of the CNTN or CNTNAP genes, including CNTNAP2, placing marked limits on the scale of their plausible contribution to risk.

Clinical characteristics of children and young adults with co-occurring autism spectrum disorder and epilepsy.

El Achkar CM, Spence SJ.

Epilepsy Behav. 2015 Jan 15. pii: S1525-5050(14)00689-1.

The association between autism spectrum disorder (ASD) and epilepsy has been described for decades, and yet we still lack the full understanding of this relationship both clinically and at the pathophysiologic level. This review evaluates the available data in the literature pertaining to the clinical characteristics of patients with autism spectrum disorder who develop epilepsy and, conversely, patients with epilepsy who develop autism spectrum disorder. Many studies demonstrate an increased risk of epilepsy in individuals with ASD, but rates vary widely. This variability is likely secondary to the different study methods employed, including the study population and definitions of the disorders. Established risk factors for an increased risk of epilepsy in patients with ASD include intellectual disability and female gender. There is some evidence of an increased risk of epilepsy associated with other factors such as ASD etiology (syndromic), severity of autistic features, developmental regression, and family history. No one epilepsy syndrome or seizure type has been associated, although focal or localization-related seizures are often reported. The age at seizure onset can vary from infancy to adulthood with some evidence of a bimodal age distribution. The severity and intractability of epilepsy in populations with ASD have not been well studied, and there is very little investigation of the role that epilepsy plays in the autism behavioral phenotype. There is evidence of abnormal EEGs (especially epileptiform abnormalities) in children with ASD even in the absence of clinical seizures, but very little is known about this phenomenon and what it means. The development of autism spectrum disorder in patients with epilepsy is less well studied, but there is evidence that the ASD risk is greater in those with epilepsy than in the general population. One of the risk factors is intellectual disability, and there is some evidence that the presence of a particular seizure type, infantile spasms, may increase risk, but some of the data are conflicting. We believe that one of the reasons that so little is known about this phenomenon is the lack of cross talk between researchers and clinicians alike in the two fields. We conclude that large systematic studies that employ strict ascertainment of samples using standardized definitions of both disorders, validated data collection tools, and appropriate longitudinal follow-up are needed to better shed light on certain clinical aspects of the comorbidity of ASD and epilepsy. Ideally, we could provide the optimal diagnostic and treatment services to these patients in a multidisciplinary setting with both epilepsy and neurobehavioral specialists. This article is part of a Special Issue entitled "Autism and Epilepsy".

Social communication difficulties and autism in previously institutionalized children.

Levin AR, Fox NA, Zeanah CH Jr, Nelson CA.

J Am Acad Child Adolesc Psychiatry. 2015 Feb;54(2):108-115.e1.

OBJECTIVE: To determine the risk of difficulties with social communication and restricted/repetitive behaviors as well as the rate of autism in children institutionalized in early infancy and to assess the impact of a foster care intervention on ameliorating this risk.

METHOD: Children abandoned at birth and raised in institutions in Bucharest, Romania were randomly assigned to a care-as-usual group (institutional care, CAUG), or placed in family-centered foster care (FCG) as part of the Bucharest Early Intervention Project (BEIP). At approximately 10 years of age, the Social Communication Questionnaire (SCQ) was administered to caregivers of children in both groups as well as to parents of a typically developing community sample (Never-Institutionalized group [NIG]) residing in Bucharest, Romania. Children scoring ≥12 on the SCQ underwent clinical evaluation for autism spectrum disorder (ASD).

RESULTS: Caregivers of children with a history of institutionalization reported that these children had significantly more deviant behavior than never-institutionalized children on all subdomains of the SCQ (all p < 0.001). Children in the FCG had significantly lower scores on the SCQ than children in the CAUG (p < .001), particularly in the reciprocal social interaction domain, indicating that the intervention reduced problems in social communication. Three of 60 CAUG children, 2 of 57 FCG children, and none of the NIG children received a formal ASD diagnosis.

CONCLUSION: Early institutional rearing was associated with an increased risk of social communication difficulties and ASD. A family-centered foster care intervention improved social communication skills.


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