1,721,963 research outputs found
The Work of Grunya Efimovna Sukhareva in the Field of Autism Spectrum Disorder One Hundred Years After Her Original Description.
Full text linkDespite several articles that in recent years have highlighted the work of the Russian child psychiatrist and researcher Grunya Efimovna Sukhareva (Kiev, 1891 - Moscow, 1981), even today the prevailing opinion, at least in the Western world, does not attribute to this author the merit of the original clinical description of autism spectrum disorder. In fact, this credit is still attributed today first to Leo Kanner and second to Hans Asperger, who in 1943 and 1944 respectively described some cases of children who today would certainly be diagnosed with autism spectrum disorder. In reality, almost 20 years earlier than Kanner and Asperger, that is in 1925, Sukhareva published a paper in which she described with great accuracy and in a modern way the cases of 6 children affected, using current terminology, by autism spectrum disorder, that today would be defined as "high-functioning." Later, in 1927, Sukhareva described 5 girls affected, emphasizing the sex-related differences in autistic features, which today represent a very current and still debated topic. Over the next few decades, her work remained largely unknown to most of the Western scientific world. In this paper, the intention is to pay tribute to Sukhareva's work in particular (but not only) in the field of autism and discuss some possible hypotheses as to why it has been ignored by most for decades
Autism spectrum disorder today: not only genetics.
No full textToday, a significant role of genetic factors is widely accepted also in non-syndromic autism spectrum disorder (ASD), that is ASD not secondary to a well-known genetic condition. Modern genetic techniques, such as microarray and whole-genome sequencing, showed the involvement of a large number of genes
in ASD etiopathogenesis. However, the dramatic increase of ASD prevalence during the last decades suggests that environmental factors also play an important role. The pre-, peri-, and postnatal exposure to many heterogeneous environmental factors have been hypothesized to be involved, such as air pollutants, pesticides, and other endocrine-disrupting chemicals. Further research is needed to understand the subtle interactions between genetic and environmental factors in the etiopathogenesis of ASD, considering also the concept of epigenetics, which is a very important gene regulation mechanism based on chemical modifications of DNA and histone proteins, without altering the DNA sequence. Moreover, an increasing amount of literature data suggest that epigenetic mechanisms could be the mediators of effects deriving from environmental factors both in ASD and in other neurodevelopmental disorders
Syndromic Autism Spectrum Disorder: Let Us Not Forget about Succinic Semialdehyde Dehydrogenase Deficiency. A Case Report with Literature Review.
No full textWe describe a girl with syndromic autism spectrum disorder (ASD), who at the end of the medical workup proved affected by a succinic semialdehyde dehydrogenase (SSADH) deficiency, a rare autosomal-recessive disorder of degradation of the γ-aminobutyric acid (GABA), that is, the most important central nervous system inhibitory neurotransmitter. The diagnosis of SSADH deficiency was made using a next-generation sequencing (NGS) multigene panel for neurological disorders and was confirmed by urinary organic acid analysis. Compared to the classic description of SSADH deficiency, our patient presented a less severe picture. In fact, she had no epilepsy, and her neuromotor signs were soft, and over time they became less evident. This case report emphasizes the importance of considering in a patient with syndromic ASD, the possible diagnosis of SSADH deficiency, even when all its typical signs are not present. Nowadays, the use of NGS multigene panels could facilitate the etiological diagnosis in individuals with syndromic ASD
Long-term outcome of autism spectrum disorder.
No full textIn most cases, autism spectrum disorder is a life-long condition, often severely
affecting the quality of life of the patient and his/her family, but nowadays
this diagnosis should not be considered a final sentence without appeal. Although
even today the recovery from the autism spectrum is an unlikely possibility, a
timely psycho-educational intervention can significantly improve the level of
autonomy reached by the individual and therefore favorably modify the outcome.
Some predictors of long-term outcome are known, primarily childhood intelligence
quotient and early language/communication ability, but today this issue is still
open. The lack of studies evaluating the long-term effects of the most important
intervention programmes should be filled with adequate research. Community
support and social integration may be very important in improving outcomes for
individuals with autism spectrum disorder. But a real social integration involves
a work activity and this is still a great problem today. An adequate and timely
preparation of the working career of these individuals is fundamental for their
future, and it should be done by choosing, as far as possible, suitable
activities for them. Finally, in creating a dignified future for people with
autism, we must never forget to listen to their point of view, whenever possible,
in order to meet their particular needs
Update about "minimally verbal" children with autism spectrum disorder.
Full text linkOBJECTIVE: To review clinical and neurobiological features of minimally verbal children with autism spectrum disorder.
DATA SOURCE: We carried out a narrative review using the PubMed database. We considered the following search terms combined through the Boolean operator "AND": "autism spectrum disorder"; "minimally verbal."
DATA SYNTHESIS: To date, there is no shared definition of minimally verbal children with autism spectrum disorder. The heterogeneity in intellectual functioning and in linguistic abilities among these individuals suggests there is no single mechanism underlying their difficulties in learning to speak. However, the reasons why these children do not speak and the biological markers that can identify them are still unknown. Language impairment in these children can lead to several unfavorable consequences, including behavior problems (such as self-aggression, hetero-aggression, and property destruction), poorer daily living and social skills. Psychiatric comorbidities (including attention deficit/hyperactivity disorder, specific phobias, and compulsions) consist in a serious problem related to the lack of verbal language in individuals with autism spectrum disorder. Although in the literature there are very few evidence-based results, several findings suggest that an alternative and augmentative communication intervention, creating an extra-verbal communication channel, may be effective in these individuals.
CONCLUSIONS: The exact definition, clinical characteristics, associated disorders, etiology, and treatment of minimally verbal subjects with autism spectrum disorder must still be further studied and understood
Mild phenotype associated with SLC6A1 gene mutation: A case report with literature review.
No full textThe Solute Carrier Family 6 Member 1 (SLC6A1) gene encodes the gamma-aminobutyric acid (GABA) transporter 1, which is one of the main GABA transporters. The clinical picture of SLC6A1 gene mutations is characterized by a broader spectrum including a mild-to-moderate intellectual disability, speech difficulties, behavioral problems, epilepsy (often with myoclonic-atonic and atypical absence seizures, characterizing a myoclonic-atonic epilepsy), and neurological signs. We describe a boy with an SLC6A1 mutation and a milder phenotype, characterized by a learning disorder without intellectual disability, nonspecific dysmorphisms, and an electroencephalogram picture closely resembling that of myoclonic-atonic epilepsy with brief absence seizures that have appeared during the follow-up, responsive to valproic acid
Epilepsy in adolescents and young adults with autistic disorder
No full textSince the first description by Kanner (1943) the association between autistic disorder (AD) and epilepsy has been observed in 4-42% of patients. Some authors reported that seizures prevailed in adolescence but a systematic investigation has never been undertaken. We examined retrospectively 60 patients divided into two groups (with and without epilepsy and EEG paroxysmal abnormalities) with AD unrelated to a congenital or acquired encephalopathy (mean age 17 years 2 months). The aim was to investigate epilepsy, EEG paroxysmal abnormalities and possible etiological factors. The prevalence of epilepsy was 38.3%, much higher than that in a normal population of a similar age (6.6‰). The prevalence of EEG paroxysmal abnormalities without epilepsy was 6.7%, higher than that in a population of adolescents and adults with psychiatric pathologies (2.6%). Seizure onset was after age 12 years in 66.7% of cases. The most common type of epilepsy was partial in 65.2% and four patients (17.4%) had a benign childhood epilepsy with centro-temporal spikes. At the last observation 44.4% of patients had been seizure-free for 2 years or more. There were no organic factors influencing the development of epilepsy but familial and personal antecedents, mental retardation and CT scan/MRI data may suggest an early brain dysfunction responsible for AD and epilepsy. (C) 2000 Elsevier Science B.V
Autism, macrocephaly and epilepsy: Is it a casual association?
No full textThe etiopathogenesis of autistic disorder (AD) seems to be related to a neurobiological multifactoriality; epilepsy is frequently reported. We describe 16 patients with AD and macrocephaly without congenital or acquired encephalopathy; 6 of them (37.5%) had epilepsy. The association between AD, macrocephaly and epilepsy is particular and in literature there are not many data: therefore this argument deserves further studies
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