Autosomal Recessive Autism: Cure of the Major Autistic Features

Background: We have previously reported our extensive experiences with autism disorders and their treatments, and we showed the possibility of curing the major autistic features with a new therapeutic approach which included individualized courses of intramuscular cerebrolysin as the main therapy for the main autistic features. Our previously published experiences included observing the occurrence of atypical autism associated with evidence of mental retardation in four brothers from outside Baghdad, each two of them from two unrelated families. The four patients were treated based on our extensive published experiences with the pharmacological treatments of autism disorders; however, the follow-up and the outcome of treatments of these four children were not described in the previous publications. The aim of this paper is to report the cure of the major autistic features in 2 brothers with autosomal recessive autism. Patients and methods: It was possible to follow the first two brothers for only few weeks and to see them after the first course of treatment, however, the second brothers were followed for more than one year, and it was possible to achieve cure of the main autistic features. Results: After one short course, the first two brothers showed slight but noticeable improvement. The younger brother showed some reduction in autistic features as he developed rather an acceptable eye contact. However, the two brothers were still not responding to name and didn’t say any word. After, treatment, the second two brothers showed no autistic features, and experienced significant improvements in speech and cognitive functions. The older brother was not having autistic features after eighth months, and was obeying commands, but was still saying only few words. The younger brother joined primary school and was doing well apart from some behavioral problems especially running away from school and sometimes breaks things. Conclusion: In this paper, cure of autism has been achieved in two boys with autosomal recessive disorder. However, cure of autism in older children has never been expected to totally normalizes them, as the patients have already lost several years of learning, social adaptation, and maturation of personality and behavior.

Association Between Residence And Disease Incidences In The Dr. Soetomo Hospital Psychiatric Clinic

Background; The increasing mental disorders prevalence adds countries’ burdens. One of the mental disorder’s risks is residence. There is no research about the relationship between residence and ten most psychiatric diseases in Surabaya. Objective; This research aims to study the relationship between residence and ten most diseases in Dr. Soetomo hospital psychiatric clinic. Methods; This research method using observational-analytic design with a cross-sectional approach in Dr. Soetomo hospital psychiatric clinic. Data were taken from medical records based on inclusion and exclusion criteria. The research used a chi-square test with 95%CI. Results: The dominant districts where research subjects lived were education-related psychiatric examinations in Semampir, paranoid schizophrenia in Sawahan, mental disorders due to brain damage in Sawahan, moderate depressive episodes in Gubeng, MMR in Kenjeran, activity and behavior disorders in Sawahan, hebefrenic schizophrenia in Tambaksari, family-related psychiatric examinations in Tambaksari, atypical autism in Sukomanunggal and Semampir, MADD in Tambaksari. Distribution of patients’ residence based on five regions of Surabaya was East Surabaya as the dominant residence of paranoid schizophrenia, moderate depressive episodes, hebefrenic schizophrenia, atypical autism, MADD; North Surabaya as the dominaNt residence of education-related psychiatric examinations, MMR; South Surabaya as the dominant residence of paranoid schizophrenia, mental disorders due to brain damage, activity and behavior disorders, family-related psychiatric examinations. Chi-square test showed a significant relationship between residence and ten most diseases. Conclusion; There is a significant (goodness of fit) relationship between residence and ten most diseases in Dr. Soetomo hospital psychiatric clinic. Keywords: Mental disorders, Residence, Surabaya City

Diagnostic, Clinical, Psychopathological, Psychological Aspects of the Examination of Children with Autism Spectrum Disorders

Objective: recently, much attention has been paid to the problem of autism spectrum disorders (ASD) in childhood. Despite the abundance of psychometric approaches to the diagnosis of autism in childhood, questions remain about the validity of their use in everyday practice. In recent years, works began to appear in the United States calling into question the practice of mandatory use of the “gold standard” methods for diagnosing ASD. Russia has many years of experience in multidisciplinary cooperation of medical psychologists and clinicians in child psychiatric practice, which makes it possible to more accurately determine the depth and severity of autistic manifestations, as well as to determine the dynamics of a child’s development, which will make it possible to provide targeted effective assistance. Aim: to develop diagnostic, clinical-psychopathological, psychological approaches to the diagnosis of autism spectrum disorders in childhood.Patients and methods: the sample consists of 254 patients aged 4–17 years (average age 7.3 years) with different forms of ASD according to ICD-10 (heading F84). The patients were examined by clinical-psychopathological, clinical-dynamic, clinical-follow-up, psychological methods.Results: the study made it possible to define the profiles of six main forms of ASD from a clinical and psychological standpoint: Asperger’s syndrome (F84.5); childhood autism dysontogenetic (F84.0); childhood psychosis (F84.02); Kanner’s syndrome (F84.01), syndromic atypical autism (F84.11),and atypical childhood psychosis (F84.12).Conclusion: the results obtained are presented in a multidisciplinary aspect, which allows the most accurately diagnose one form or another of autism spectrum disorders and to develop personalized routes of patient management.

Cognitive Features in Adults with Autism Spectrum Disorder, Diagnosed in Childhood without Intellectual Disabilities

A study of cognitive features in autism spectrum disorders (ASD) adults without intellectual disabilities involved 20 participants diagnosed in childhood with Asperger’s syndrome and atypical autism, 20 respondents with schizophrenia spectrum disorders, and 20 neurotypical adults. Following psychological instruments were used “Comparison of concepts” (15 pairs of words), “Fifth extra”, “Fourth extra”. Tools were modified to identify formal thinking disorders in adults. A free-form story was also used. It was found that answers in a sample of adults with ASD, diagnosed in childhood are significantly more often indicating a distortion of the generalization process, rather than answers in a group of neurotypical participants. At the same time, this trend in the autism group is significantly lower than in the schizophrenia group. Following trend also revealed — answers identifying a decrease in the level of generalization and disorders of the motivational cognitive component. This trend is very similar in the groups of autism and schizophrenia, but significantly exceeds in the group of neurotypical subjects

Fundamental Role of Neurochemicals Aberration in the Pathogenesis of Autism Spectrum Disorders

AIM: The aim of this research was to establish the perturbation of reliable biomarkers implicated in the pathophysiology of autism to help in the early diagnosis and to be as targets in the treatment of autism spectrum disorders (ASDs) in children and to spotlight into the complex crosstalk between these biomarkers. PATIENS AND METHODS: This study included 90 autistic children aged from 2 to 7 years old, who were classified into two groups, the atypical autism of 30 children and the childhood autism. The childhood autism group was further divided into mild-moderate autism group and severe autism group each of 30 children. The control group included 30 matched healthy children. All the participants were subjected to full psychiatric examinations, psychological investigations, and biochemical measurements, including gamma-aminobutaric acid (GABA), serotonin, dopamine (DA) in plasma, and brain-derived neurotrophic factor (BDNF) in serum. RESULTS: The autistic groups showed a highly significant increase in GABA, serotonin, DA, and BDNF levels compared to the control. Of note, the levels of GABA, DA, and BDNF were significantly increased with the increased disease severity. Furthermore, a significant positive correlation between BDNF levels and both GABA and DA levels in the childhood autism group has been recorded. CONCLUSION: The present clinical setting provides new insight into the fundamental role of BDNF in the brain of autistic children as any alterations of its level due to GABA increment cause change in serotonin and DA levels which have empirical evidence in the pathophysiology of ASD. The results received in this research, create a fertile base for the setup of particular targets in the intervention of this ailment.

Is There a Dysregulation of Backdoor Pathway of Androgen Synthesis in Autistic Disorders?

Background: Several time associations of androgens and autism were implied. Therefore, we hypothesized that a dysregulation of backdoor pathway during puberty might be one factor affecting dysregulated androgens in autism. Material & Methods: Urine samples were collected from 20 boys originally diagnosed with Asperger syndrome, 21 boys with Kanner syndrome, 8 with Atypical autism as well as 5 girls with Asperger syndrome, 10 girls with Kanner Syndrome and one with Atypical autism and a control group for gas chromatography mass spectrometry based steroid hormone analysis. As Etiocholanolone (E) originates almost exclusively from the classic pathway and Androsterone (A) may be derived additionally from the backdoor pathway analyses of A/E ratios in affected autistic boys and girls were used to identify a potential dysregulation of backdoor pathway of androgen synthesis. Results: In Kanner boys Androsterone and Eticholanolone showed increased concentrations of around fifty percent (p < 0.01). In addition, in boyswith Asperger Syndrome an increase of Androsterone (p < 0.01) and Eticholanolone (p < 0.01) was detected.