From a Molar to a Molecular Approach to the Developmental Trajectory of Syntax Comprehension of Persons with Intellectual Disability

Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review

Children ◽

10.3390/children8060450 ◽

2021 ◽

Vol 8 (6) ◽

pp. 450

Author(s):

Stefania Della Vecchia ◽

Roberta Milone ◽

Romina Cagiano ◽

Sara Calderoni ◽

Elisa Santocchi ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Intellectual Disability ◽

Literature Review ◽

High Functioning Autism ◽

Clinical Manifestations ◽

Autism Spectrum ◽

Developmental Trajectory ◽

Spectrum Disorder ◽

Binding Motif ◽

High Functioning

Background: Xia–Gibbs syndrome (XGS) is a rare disorder caused by de novo mutations in the AT-Hook DNA binding motif Containing 1 (AHDC1) gene, which is characterised by a wide spectrum of clinical manifestations, including global developmental delay, intellectual disability, structural abnormalities of the brain, global hypotonia, feeding problems, sleep difficulties and apnoea, facial dysmorphisms, and short stature. Methods: Here, we report on a girl patient who shows a peculiar cognitive and behavioural profile including high-functioning autism spectrum disorder (ASD) without intellectual disability and provide information on her developmental trajectory with the aim of expanding knowledge of the XGS clinical spectrum. On the basis of the current clinical case and the literature review, we also attempt to deepen understanding of behavioural and psychiatric manifestations associated with XGS. Results: In addition to the patient we described, a considerable rate of individuals with XGS display autistic symptoms or have been diagnosed with an autistic spectrum disorder. Moreover, the analysis of the few psychopathological profiles of patients with XGS described in the literature shows a frequent presence of aggressive and self-injurious behaviours that could be either an expression of autistic functioning or an additional symptom of the ASD evolution. A careful investigation of the abovementioned symptoms is therefore required, since they could represent a “red flag” for ASD.

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The Developmental Trajectory of Self-Injurious Behaviours in Individuals with Prader Willi Syndrome, Autism Spectrum Disorder and Intellectual Disability

Diseases ◽

10.3390/diseases4010009 ◽

2016 ◽

Vol 4 (1) ◽

pp. 9 ◽

Cited By ~ 6

Author(s):

Lauren Rice ◽

Kylie Gray ◽

Patricia Howlin ◽

John Taffe ◽

Bruce Tonge ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Intellectual Disability ◽

Autism Spectrum ◽

Developmental Trajectory ◽

Spectrum Disorder ◽

Prader Willi Syndrome

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Normocentric biases taint cognitive neuroscience and intervention of autism

Behavioral and Brain Sciences ◽

10.1017/s0140525x18002297 ◽

2019 ◽

Vol 42 ◽

Cited By ~ 1

Author(s):

Laurent Mottron

Keyword(s):

Intellectual Disability ◽

Cognitive Neuroscience ◽

Social Motivation ◽

Repetitive Behaviors ◽

Restricted Interests ◽

Autistic People

Abstract Stepping away from a normocentric understanding of autism goes beyond questioning the supposed lack of social motivation of autistic people. It evokes subversion of the prevalence of intellectual disability even in non-verbal autism. It also challenges the perceived purposelessness of some restricted interests and repetitive behaviors, and instead interprets them as legitimate exploratory and learning-associated manifestations.

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On the Relationship Between General Auditory Sensitivity and Speech Perception: An Examination of Pitch and Lexical Tone Perception in 4- to 6-Year-Old Children

Journal of Speech Language and Hearing Research ◽

10.1044/2019_jslhr-19-00104 ◽

2020 ◽

Vol 63 (2) ◽

pp. 487-498

Author(s):

Puisan Wong ◽

Man Wai Cheng

Keyword(s):

Speech Perception ◽

Theoretical Models ◽

Developmental Trajectory ◽

Auditory Sensitivity ◽

Pitch Discrimination ◽

Lexical Tone ◽

Perceptual Training ◽

Lexical Tones ◽

Tone Perception ◽

Tone Discrimination

Purpose Theoretical models and substantial research have proposed that general auditory sensitivity is a developmental foundation for speech perception and language acquisition. Nonetheless, controversies exist about the effectiveness of general auditory training in improving speech and language skills. This research investigated the relationships among general auditory sensitivity, phonemic speech perception, and word-level speech perception via the examination of pitch and lexical tone perception in children. Method Forty-eight typically developing 4- to 6-year-old Cantonese-speaking children were tested on the discrimination of the pitch patterns of lexical tones in synthetic stimuli, discrimination of naturally produced lexical tones, and identification of lexical tone in familiar words. Results The findings revealed that accurate lexical tone discrimination and identification did not necessarily entail the accurate discrimination of nonlinguistic stimuli that followed the pitch levels and pitch shapes of lexical tones. Although pitch discrimination and tone discrimination abilities were strongly correlated, accuracy in pitch discrimination was lower than that in tone discrimination, and nonspeech pitch discrimination ability did not precede linguistic tone discrimination in the developmental trajectory. Conclusions Contradicting the theoretical models, the findings of this study suggest that general auditory sensitivity and speech perception may not be causally or hierarchically related. The finding that accuracy in pitch discrimination is lower than that in tone discrimination suggests that comparable nonlinguistic auditory perceptual ability may not be necessary for accurate speech perception and language learning. The results cast doubt on the use of nonlinguistic auditory perceptual training to improve children's speech, language, and literacy abilities.

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