Electroencephalographic Abnormalities in Autism Spectrum Disorder: Characteristics and Therapeutic Implications

Precenzano, Francesco; Parisi, Lucia; Lanzara, Valentina; Vetri, Luigi; Operto, Francesca Felicia; Pastorino, Grazia Maria Giovanna; Ruberto, Maria; Messina, Antonietta; Risoleo, Maria Cristina; Santoro, Claudia; Bitetti, Ilaria; Marotta, Rosa

doi:10.3390/medicina56090419

Cited by 30 publications

(16 citation statements)

References 84 publications

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“…It can display a great phenotypic heterogeneity, expressing in a broad constellation of linguistic, personality, socio-behavioral traits associated with several neurodevelopmental, medical and psychiatric comorbidities that further complicate such complex picture. Such diversified phenomenology has supported a plethora of therapeutic and rehabilitative approaches that often confuse the caregivers and increase parental stress [4][5][6][7][8].…”

Section: Introductionmentioning

confidence: 99%

On the Playing Field to Improve: A Goal for Autism

Vetri

Roccella

2020

Medicina

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In recent years, there has been a renewed attention to lifestyle-based interventions in people with autism spectrum disorder. The positive effects of physical exercise programs have been well documented both in healthy people and in people with disabilities in the fields of psychological well-being, cognitive outcome and medical health. There is much less evidence about the opportunity to attempt a team-group sport for people with autism. Although researchers seem to suggest an overall positive effect, playing team sports for people with autism spectrum disorder (ASD) means dealing with difficulties in social interactions and limitations in motor functions. This narrative review aims to report studies about the effects, improvements and difficulties that people with autism have to face when they play the world’s most popular team sport: soccer.

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Section: Introductionmentioning

confidence: 99%

On the Playing Field to Improve: A Goal for Autism

Vetri

Roccella

2020

Medicina

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“…We did not observe a delayed myelination in our patient, but this could be explained by the timing of brain MRI, at 16 years old, when this feature is usually no more evident. Mutations in both AHNAK2 and PRX genes have been described as causing Charcot–Marie–Tooth disease (Han & Kursula, 2014 ; Precenzano et al, 2020 ; Tey et al, 2019 ). Altogether, the literature strongly suggests pleiotropic effects caused by mutations in the AHNAK2 gene.…”

Section: Discussionmentioning

confidence: 99%

Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene

Vinci

Kursula

Greco

et al. 2022

Molec Gen & Gen Med

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Background:The AHNAK2 gene encodes a large nucleoprotein expressed in several tissues, including brain, squamous epithelia, smooth muscle, and neuropil. Its role in calcium signaling has been suggested and to date, clear evidence about its involvement in the pathogenesis of clinical disorders is still lacking.Methods: Here, we report a female 24-year-old patient diagnosed with a cardiofacio-cutaneous-like phenotype (CFC-like), characterized by epilepsy, psychomotor development delay, atopic dermatitis, congenital heart disease, hypotonia, and facial dysmorphism, who is compound heterozygote for two missense mutations in the AHNAK2 gene detected by exome sequencing. Results:This patient had no detectable variant in any of the genes known to be associated with the cardio-facio-cutaneous syndrome. Moreover, the mode of inheritance does not appear to be autosomal dominant, as it is in typical CFC syndrome. We have performed in silico assessment of mutation severity separately for each missense mutation, but this analysis excludes a severe effect on protein function. Protein structure predictions indicate the mutations are located in flexible regions possibly involved in molecular interactions. Conclusion:We discuss an alternative interpretation on the potential involvement of the two missense mutations in the AHNAK2 gene on the expression of CFC-like phenotype in this patient based on inter-allelic complementation.

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“…The current prevalence of ASD in developed countries is approximately 1%–2% (Baron-Cohen et al, 2009; Elsabbagh et al, 2012; Lyall et al, 2017). Early signs of ASD can be observed in the first few years of life (Robins, 2008; Werner et al, 2000), with electroencephalographic abnormalities shown in the first few months after birth (Precenzano et al, 2020), indicating prenatal factors may be important. ASD symptoms may have similar aetiological structure and impairment profiles as ASD (Robinson et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

Early life environmental factors associated with autism spectrum disorder symptoms in children at age 2 years: A birth cohort study

Pham

Symeonides

O’Hely

et al. 2022

Autism

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Mounting evidence finds that early life environmental factors increased the probability of autism spectrum disorder. We estimated prospective associations between early life environmental factors and autism spectrum disorder symptoms in children at the age of 2 years in a population-derived birth cohort, the Barwon Infant Study. Autism spectrum disorder symptoms at the age of 2 years strongly predicted autism spectrum disorder diagnosis by the age of 4 years (area under curve = 0.93; 95% CI (0.82, 1.00)). After adjusting for child’s sex and age at the time of behavioural assessment, markers of socioeconomic disadvantage, such as lower household income and lone parental status; maternal health factors, including younger maternal age, maternal pre-pregnancy body mass index, higher gestational weight gain and prenatal maternal stress; prenatal alcohol; environmental air pollutant exposures, including particulate matter < 2.5 µm at birth, child secondhand tobacco smoke exposure at 12 months, dampness/mould and home heating with oil, kerosene or diesel heaters at 2 years postnatal. Lower socioeconomic indexes for area, later birth order, higher maternal prenatal depression, and maternal smoking frequency had a dose-response relationship with autism spectrum disorder symptoms. Future studies on environmental factors and autism spectrum disorder should consider the reasons for the socioeconomic disparity and the combined impact of multiple environmental factors through common mechanistic pathways. Lay abstract Mounting evidence indicates the contribution of early life environmental factors in autism spectrum disorder. We aim to report the prospective associations between early life environmental factors and autism spectrum disorder symptoms in children at the age of 2 years in a population-derived birth cohort, the Barwon Infant Study. Autism spectrum disorder symptoms at the age of 2 years strongly predicted autism spectrum disorder diagnosis by the age of 4 years (area under curve = 0.93; 95% CI (0.82, 1.00)). After adjusting for child’s sex and age at the time of behavioural assessment, markers of socioeconomic disadvantage, such as lower household income and lone parental status; maternal health factors, including younger maternal age, maternal pre-pregnancy body mass index, higher gestational weight gain and prenatal maternal stress; maternal lifestyle factors, such as prenatal alcohol and environmental air pollutant exposures, including particulate matter < 2.5 μm at birth, child secondhand tobacco smoke at 12 months, dampness/mould and home heating with oil, kerosene or diesel heaters at 2 years postnatal. Lower socioeconomic indexes for area, later birth order, higher maternal prenatal depression and maternal smoking frequency had a dose-response relationship with autism spectrum disorder symptoms. Future studies on environmental factors and autism spectrum disorder should consider the reasons for the socioeconomic disparity and the combined impact of multiple environmental factors through common mechanistic pathways.

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Electroencephalographic Abnormalities in Autism Spectrum Disorder: Characteristics and Therapeutic Implications

Cited by 30 publications

References 84 publications

On the Playing Field to Improve: A Goal for Autism

On the Playing Field to Improve: A Goal for Autism

Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene

Early life environmental factors associated with autism spectrum disorder symptoms in children at age 2 years: A birth cohort study

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