Dravet Syndrome – Clinical and Developmental Characteristics: A Case Report

Aleksandra Đurić-Zdravković
University of Belgrade – Faculty of Special Education and Rehabilitation
https://orcid.org/0000-0003-0115-2666

Aleksandra Pavlović 

University of Belgrade – Faculty of Special Education and Rehabilitation, Belgrade

https://orcid.org/0000-0002-5987-9828

https://doi.org/10.33700/jhrs.3.2.122

Abstract

Introduction: Dravet syndrome is a rare, genetically determined epilepsy and epileptic encephalopathy primarily caused by a loss-of-function mutation in the SCN1A gene, also associated with autism spectrum disorder. Follow-ing birth, patients have typical neurodevelopment, but the regression of cognitive, motor and speech abilities become noticeable after the onset of seizures.

Aims and case report: We report on the case of a five-year-old girl with characteristic clinical features of Dravet syndrome, detailing her basic clinical and developmental characteristics, disease course and treatment. The first seizure occured at four months of age, coinciding with increased body temperature, and by the end of first year she developed recurrent seizures. While the baseline electroencephagram was nomal, follow-up examinations revealed continuous high-amplitude and sharp, multifocal spike waves. During her second year of life, significant delay in psychomotor development became apparent. The Bayley-III scale was used to assess psychomotor de-velopment in cognition area, comprehension and quality of speech, as well as fine and gross motor skills. The results indicated that her cognitive abilities corresponded to those of an eight-month-old child, while her motor skills were at the level of an 18-month-old. Notable gait impairment was observed, with a wide-based crouch gait. The patient was also diagnosed with an autism spectrum disorder.

Conclusion: Although rare, Dravet syndrome is an important differential diagnosis in children presenting with early-onset epilepsy and progressive developmental delays. It is essential to evaluate patients for common comor-bidities, such as autism, gait disorders, and intellectual disability, important determinants of patients’ quality of life.

Keywords: Dravet syndrome, epilepsy, autism spectrum disorder, developmental delay

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Association between Autism Spectrum Disorder and Cancer - a Review from the Literature

Vladimir Trajkovski 

Institute of Special Education and Rehabilitation, Faculty of Philosophy, University “Ss. Cyril and Methodius, Skopje, Macedonia

https://orcid.org/0000-0002-8369-9501

https://doi.org/10.33700/jhrs.3.1.103

ABSTRACT

Introduction: Autism spectrum disorder (ASD) is neurodevelopmental polygenic disorder with strong genetic component. In adult period, it is associated with many chronic diseases including diabetes, hypertension, cardiovascular disease, and cancer.

The aim of this article is to show possible connection between autism spectrum disorder and some kinds of cancers, and to show possible pathways for prevention and treatment.

Methodology: The PubMed and Google Scholar databases were searched using the keywords: autism spectrum disorder, genetics, cancer, prevention and treatment.

Results: Autism spectrum disorder is associated with high rates of genomic aberrations, including chromosomal rearrangements and de novo copy-number variations. Autism and cancer share 43 risk genes, suggesting that common mechanisms underlying the functions of some of these genes could conceivably be leveraged to develop therapies not just for cancer but for autism as well. Pleiotropy, whereby gene variants exert effects on multiple phenotypes, has been the source of increasing research attention with ASD and cancer.

Germline loss-of-function PTEN mutations increase the rate of benign and malignant tumors and also manifest as ASD and macrocephaly. Mutations in TSC1 and TSC2 genes cause tuberous sclerosis complex which is characterized by cortical tubers, and neurocognitive phenotypes including epilepsy, ASD, and intellectual disability (ID).

Conclusion: There is may be an association between autism and specific forms of cancer. Further epidemiologic research in large populations is needed to elucidate the association between autism and cancer and identify explanatory factors. Approved drugs targeting oncogenic pathways might also have therapeutic value for treating autism spectrum disorder.

Keywords: autism spectrum disorder, cancer, genetics, prevention, treatment

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Age of Autism Spectrum Disorder diagnosis and associated factors

Irena Stojanovska Institute for Special Education and Rehabilitation, Faculty of Philosophy, "Ss. Cyril and Methodius" University, Skopje, Macedonia https://orcid.org/0000-0001-6483-4723

https://doi.org/10.33700/jhrs.2.1.66

ABSTRACT

Introduction The mean age of autism spectrum disorder (ASD) diagnosis varies globally and the factors affecting it are inconsistent across populations and studies.

Aim Quantitative research was undertaken to investigate the age ASD was diagnosed and some possibly related factors, in a sample from Macedonia.

Methods A web-based survey was conducted among 103 parents of 103 individuals with ASD, from December 2021 to May 2022. Socio-demographic characteristics of parents/families and demographic and medical characteristics of individuals with ASD were reported through an anonymous questionnaire. Descriptive statistics and non-parametric inferential statistical tests were used to analyse data.

Results The median age of the ASD sample was 10 years and most individuals (47.57%) had moderately severe ASD. In 39.81% ASD was diagnosed by a psychiatrist/neuropsychiatrist, in 37.86% by several professionals, while paediatricians/developmental paediatricians were the source of diagnosis in only 2.91%. Over half of the individuals with ASD (51.46%) received the diagnosis before the age of 4, while around 17% received the diagnosis after the age of 6. The level of education of the parents, family living location, gender, current age and severity of ASD were not found to be associated with the age of diagnosis.

Conclusion Nearly 1/5 of the sample was diagnosed comparatively late ‒ at school age. However, characteristics pertaining to parents/families and to individuals with ASD, did not significantly affect the age of diagnosis. Possible influence of other, external factors (e.g., awareness and vigilance among professionals, availability of early screening programs) is acknowledged and will be included in further research.

Keywords: Autism Spectrum Disorder, diagnosis, age, severity, parents

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Social skills critical for success in elementary school: teachers and special educators’ perspective

Slobodan Banković Faculty of Special Education and Rehabilitation, University of Belgrade, Belgrade, Serbia https://orcid.org/0000-0003-4714-5496
Branislav Brojčin University of Belgrade – Faculty of Special Education and Rehabilitation, Belgrade, Serbia https://orcid.org/0000-0002-3993-2820
Ivana Vasilevska Petrovska Macedonian Scientific Society for Autism, Skopje, Macedonia and Autism Institute, Skopje, Macedonia https://orcid.org/0000-0002-5901-1981
Marina Antonijević Elementary School "Miloje Pavlović", Belgrade, Serbia https://orcid.org/0009-0000-7931-2346
Aleksandra Bukovica Elementary School "Miloje Pavlović", Belgrade, Serbia https://orcid.org/0009-0001-6518-4256

https://doi.org/10.33700/jhrs.2.1.65

ABSTRACT

Introduction Students with more advanced social skills are more likely to meet teacher expectations in terms of classroom behaviour and participation in the teaching and learning process. On the other hand, students with special educational needs (SEN) often have difficulties in developing these skills. Insight into social skills that teachers consider critical for the success of students in their classes enables better preparation of SEN students for inclusion in a mainstream environment. The purpose of this study is to determine which social skills are considered critical for classroom success by regular teachers who teach students with autism spectrum disorder (ASD) in inclusive classrooms and special educators in special schools.
Method The sample consists of 33 regular teachers and 57 special educators. The Social Skills Improvement System (SSIS) Teaching Form was used for data collection.
Results Both participant groups attributed the highest value to Cooperation skills, however skills related to Responsibility and Self-Control were also highly valued. Ratings of teachers and special educators differ significantly only for Empathy skills, with significantly lower values attributed by special educators. Significant differences between participants who teach in lower and upper elementary grades were found only for special educators, with a higher value for Assertion attributed by special educators in upper grades.
Conclusion Teachers and special educators place significant emphasis on social skills such as Cooperation, Responsibility, and Self-Control, which facilitate unhindered teaching and learning processes.

Keywords: social skills, autism spectrum disorder, teachers, special educators, inclusive education, importance rating

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Disruptive Mood Dysregulation Disorder Associated with Autism Spectrum Disorder: Literature Review and Case Illustrations

China Parenteau Department of Psychiatry and Behavioral Sciences, University of California, San Francisco, USA https://orcid.org/0000-0001-6812-9263

Robert Hendren Department of Psychiatry and Behavioral Sciences, University of California, San Francisco, USA https://orcid.org/0000-0001-8470-4862

DOI: https://doi.org/10.33700/jhrs.1.1.45

ABSTRACT

Introduction: Irritability has become increasingly prevalent over the past few decades and is often seen in both children with autism spectrum disorder (ASD), and disruptive mood dysregulation disorder (DMDD). Despite this overlap, there has been scant research on treatment for irritability experienced by individuals with co-occurring ASD and DMDD.
Objectives: This paper aims to explore the development of DMDD and to shed light on potential treatment regimens that address irritability through case illustrations of individuals who experience co-occurring ASD and DMDD.
Methods: Three patients seen through a specialty clinic were selected based on their co-occurring diagnoses of ASD & DMDD.
Conclusions: The case illustrations showed that ASD and DMDD often also occurred in the presence of other disorders. Antipsychotics and CBT have shown the most benefits, but mood stabilizers are becoming more prominent for certain combinations of ASD and DMDD. More research is needed on treatment for irritability across co-occurring disorders.

Keywords: Autism Spectrum Disorder, Disruptive Mood Dysregulation Disorder, Case Series, Pharmacological Treatment, Comorbidities

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