8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature

To date only five patients with 8p23.2-pter microdeletions manifesting a mild-to-moderate cognitive impairment and/or developmental delay, dysmorphisms and neurobehavioral issues were reported. The smallest microdeletion described by Wu in 2010 suggested a critical region (CR) of 2.1 Mb including several genes, out of which FBXO25, DLGAP2, CLN8, ARHGEF10 and MYOM2 are the main candidates. Here we present seven additional patients with 8p23.2-pter microdeletions, ranging from 71.79 kb to 4.55 Mb. The review of five previously reported and nine Decipher patients confirmed the association of the CR with a variable clinical phenotype characterized by intellectual disability/developmental delay, including language and speech delay and/or motor impairment, behavioral anomalies, autism spectrum disorder, dysmorphisms, microcephaly, fingers/toes anomalies and epilepsy. Genotype analysis allowed to narrow down the 8p23.3 candidate region which includes only DLGAP2, CLN8 and ARHGEF10 genes, accounting for the main signs of the broad clinical phenotype associated to 8p23.2-pter microdeletions. This region is more restricted compared to the previously proposed CR. Overall, our data favor the hypothesis that DLGAP2 is the actual strongest candidate for neurodevelopmental/behavioral phenotypes. Additional patients will be necessary to validate the pathogenic role of DLGAP2 and better define how the two contiguous genes, ARHGEF10 and CLN8, might contribute to the clinical phenotype.

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Hearing and Neurodevelopmental Outcomes of Young Infants with Parechovirus-A and Enterovirus Meningitis: Cohort Study in Singapore Children and Literature Review

Journal of Pediatric Neurology ◽

10.1055/s-0040-1716366 ◽

2020 ◽

Author(s):

Elis Yuexian Lee ◽

Jessica Hui Yin Tan ◽

Chew Thye Choong ◽

Nancy Wen Sim Tee ◽

Chia Yin Chong ◽

...

Keyword(s):

Developmental Delay ◽

Oropharyngeal Dysphagia ◽

Significant Risk ◽

Developmental Outcomes ◽

Autism Spectrum ◽

Clinical Findings ◽

Cortical Blindness ◽

Speech Delay ◽

Neurodevelopmental Outcomes ◽

Young Infants

Abstract Parechovirus-A (PeV-A) and Enterovirus (EV) commonly cause childhood aseptic meningitis. Bacterial meningitis in children has been associated with devastating long-term sequelae. However, developmental outcomes are unclear in Parechovirus meningitis. This study aims to review the clinical findings and developmental outcomes of infants with PeV-A and EV meningitis. We performed a retrospective study of infants aged 90 days or younger being admitted to our hospital with PeV-A meningitis between November 2015 and July 2017, with positive cerebrospinal fluid (CSF) PeV-A PCR and negative blood and CSF bacterial cultures. Hearing and neurodevelopmental outcomes were compared with a previous cohort of infants aged 90 days or younger with EV meningitis admitted from January 2015 to December 2015. A total of 161 infants were included in our study, of which 68 infants (42.2%) had PeV-A meningitis and 93 infants (57.8%) had EV meningitis. We assessed their developmental outcome at 6 months, 1 year, and 2 years post-meningitis. At 2 years post-meningitis, three infants with PeV-A meningitis had developmental delay (5.5%), whereas none with EV meningitis had developmental delay. One patient had speech delay and autism spectrum disorder, while two had mild speech delay. When compared with our cohort of EV meningitis ≤90 days old, children with PeV-A meningitis ≤90 days old were more likely to have developmental delay 2 years post-meningitis (odds ratio 2.4, 95% confidence interval 2.0–3.0, p = 0.043). None of the patients with PeV-A or EV meningitis had sensorineural hearing loss or neurological sequelae, such as cortical blindness, oropharyngeal dysphagia, hydrocephalus, epilepsy, or cerebral palsy. Infants with PeV-A meningitis had a significant risk of developmental delay 2 years post-meningitis compared with those with EV meningitis. It is important to follow-up the developmental milestones of infants diagnosed with PeV-A meningitis for at least 2 years; and when they develop developmental delay, to ensure that they receive appropriate intervention.

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The Role of Functional MRI in Understanding the Origin of Speech Delay in Autism Spectrum Disorders

Sovremennye tehnologii v medicine ◽

10.17691/stm2019.11.3.09 ◽

2019 ◽

Vol 11 (3) ◽

pp. 66

Author(s):

E.A. Kliuev ◽

G.E. Sheyko ◽

M.G. Dunayev ◽

S.A. Abramov ◽

V.V. Dvoryaninova ◽

...

Keyword(s):

Autism Spectrum Disorders ◽

Functional Mri ◽

Autism Spectrum ◽

Speech Delay ◽

Spectrum Disorders

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Intragenic rearrangements inNRXN1in three families with autism spectrum disorder, developmental delay, and speech delay

American Journal of Medical Genetics Part B Neuropsychiatric Genetics ◽

10.1002/ajmg.b.31064 ◽

2010 ◽

Vol 9999B ◽

pp. n/a-n/a ◽

Cited By ~ 6

Author(s):

Barbara Wiśniowiecka-Kowalnik ◽

Monika Nesteruk ◽

Sarika U. Peters ◽

Zhilian Xia ◽

M. Lance Cooper ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Developmental Delay ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Speech Delay

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The potential role of oxytocin and perinatal factors in the pathogenesis of autism spectrum disorders – review of the literature

Psychiatry Research ◽

10.1016/j.psychres.2016.12.007 ◽

2017 ◽

Vol 247 ◽

pp. 288-290 ◽

Cited By ~ 7

Author(s):

Melinda Vanya ◽

Szabina Szucs ◽

Agnes Vetro ◽

Gyorgy Bartfai

Keyword(s):

Autism Spectrum Disorders ◽

Potential Role ◽

Autism Spectrum ◽

Review Of The Literature ◽

Perinatal Factors ◽

Spectrum Disorders

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Spinal Cord Infarction in the Course of a Septic Shock: About One Case and Review of the Literature

Case Reports in Critical Care ◽

10.1155/2017/1571048 ◽

2017 ◽

Vol 2017 ◽

pp. 1-4 ◽

Cited By ~ 1

Author(s):

P. Henin ◽

A. Molderez ◽

V. Huberlant ◽

H. Trine

Keyword(s):

Septic Shock ◽

Bile Ducts ◽

Spinal Cord Infarction ◽

Review Of The Literature ◽

Resonance Imaging ◽

Pathogenic Role ◽

Mri Findings ◽

Endoscopic Extraction ◽

Magnetic Resonance Imaging Mri

We report the case of a patient admitted to our intensive care unit in the course of a septic shock, secondary to cholangitis. After rapid hemodynamic stabilization, antibiotherapy, and endoscopic extraction of bile ducts stones, she appeared to have developed flaccid paraplegia. The suspected diagnosis of medullar ischemia was confirmed by typical MRI findings. This case stresses the potential pathogenic role of hypotension in medullar ischemia and the place of magnetic resonance imaging (MRI) as a reliable diagnostic tool.

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Examining the Role of Language in Play Among Children With and Without Developmental Disabilities

Language Speech and Hearing Services in Schools ◽

10.1044/2020_lshss-19-00084 ◽

2020 ◽

Vol 51 (3) ◽

pp. 795-806 ◽

Cited By ~ 1

Author(s):

Elizabeth J. Short ◽

Rachael Cooper Schindler ◽

Rita Obeid ◽

Maia M. Noeder ◽

Laura E. Hlavaty ◽

...

Keyword(s):

Developmental Disabilities ◽

Autism Spectrum ◽

Free Play ◽

Group Differences ◽

Typically Developing ◽

Play Skills ◽

Critical Aspect ◽

Hyperactivity Disorder ◽

Better Than

Purpose Play is a critical aspect of children's development, and researchers have long argued that symbolic deficits in play may be diagnostic of developmental disabilities. This study examined whether deficits in play emerge as a function of developmental disabilities and whether our perceptions of play are colored by differences in language and behavioral presentations. Method Ninety-three children participated in this study (typically developing [TD]; n = 23, developmental language disorders [DLD]; n = 24, attention-deficit/hyperactivity disorder [ADHD]; n = 26, and autism spectrum disorder [ASD]; n = 20). Children were videotaped engaging in free-play. Children's symbolic play (imagination, organization, elaboration, and comfort) was scored under conditions of both audible language and no audible language to assess diagnostic group differences in play and whether audible language impacted raters' perception of play. Results Significant differences in play were evident across diagnostic groups. The presence of language did not alter play ratings for the TD group, but differences were found among the other diagnostic groups. When language was audible, children with DLD and ASD (but not ADHD) were scored poorly on play compared to their TD peers. When language was not audible, children with DLD were perceived to play better than when language was audible. Conversely, children with ADHD showed organizational deficits when language was not available to support their play. Finally, children with ASD demonstrated poor play performance regardless of whether language was audible or not. Conclusions Language affects our understanding of play skills in some young children. Parents, researchers, and clinicians must be careful not to underestimate or overestimate play based on language presentation. Differential skills in language have the potential to unduly influence our perceptions of play for children with developmental disabilities.

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The Role of the SLP in Autism Spectrum Disorder Screening and Assessment

Perspectives on Language Learning and Education ◽

10.1044/lle15.2.50 ◽

2008 ◽

Vol 15 (2) ◽

pp. 50-59 ◽

Cited By ~ 1

Author(s):

Amy Philofsky

Keyword(s):

Language Development ◽

Critical Role ◽

Children With Autism ◽

Autism Spectrum ◽

Children With Asd ◽

Prevalence Estimates ◽

Notable Increase ◽

Screening Assessment ◽

Critical Components

AbstractRecent prevalence estimates for autism have been alarming as a function of the notable increase. Speech-language pathologists play a critical role in screening, assessment and intervention for children with autism. This article reviews signs that may be indicative of autism at different stages of language development, and discusses the importance of several psychometric properties—sensitivity and specificity—in utilizing screening measures for children with autism. Critical components of assessment for children with autism are reviewed. This article concludes with examples of intervention targets for children with ASD at various levels of language development.

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Social Representations and Commitment

European Psychologist ◽

10.1027/1016-9040/a000317 ◽

2018 ◽

Vol 23 (3) ◽

pp. 233-249 ◽

Cited By ~ 4

Author(s):

Eric Bonetto ◽

Fabien Girandola ◽

Grégory Lo Monaco

Keyword(s):

Social Representations ◽

Social Representation ◽

Second Line ◽

Review Of The Literature ◽

First Line ◽

Research Perspectives ◽

The Social ◽

Bibliographic Search ◽

English Articles

Abstract. This contribution consists of a critical review of the literature about the articulation of two traditionally separated theoretical fields: social representations and commitment. Besides consulting various works and communications, a bibliographic search was carried out (between February and December, 2016) on various databases using the keywords “commitment” and “social representation,” in the singular and in the plural, in French and in English. Articles published in English or in French, that explicitly made reference to both terms, were included. The relations between commitment and social representations are approached according to two approaches or complementary lines. The first line follows the role of commitment in the representational dynamics: how can commitment transform the representations? This articulation gathers most of the work on the topic. The second line envisages the social representations as determinants of commitment procedures: how can these representations influence the effects of commitment procedures? This literature review will identify unexploited tracks, as well as research perspectives for both areas of research.

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