Contributions of autism evaluation unit in the clinical diagnosis of autism spectrum disorders.

BACKGROUND: Based on the recognized principles of assessment of autistic disorders, the child and adolescent psychiatry department in Razi Hospital developed, in coordination with the department of neurology of Razi Hospital and the department of genetics of Charles Nicolle's Hospital an assessment unit for autism spectrum disorders. OBJECTIVE: To describe the clinical characteristics in terms of severity and comorbidities of children assessed for autism spectrum disorders. METHODS: We compiled data about clinical examination of autistic symptoms using the Autism Diagnostic Interview Revised (ADI-R) and the Childhood autism Rating Scale (CARS). Each child developmental age was determined using the Psycho Educative Profile (PEP-R). Neurological examination completed with electroencephalography and genetics testing (caryoptype and X fragile) were performed. RESULTS: Fifty-two children were included in our study. The mean age was 6.6 years with a sex ratio of 6.5. The severity of the clinical presentations was assessed through the following score means: CARS 35, ADI-B: 20, ADI-C: 13, ADI-D: 7, functional developmental age: 2.4 years. Comorbidity with epilepsy was present in 7% of cases and an intellectual disability was found in 80% of them. Genetic tests were normal. CONCLUSION: Our results will be discussed in the light of international recommendations.

De novo balanced translocation t (7;16) (p22.1; p11.2) associated with autistic disorder.

The high incidence of de novo chromosomal aberrations in a population of persons with autism suggests a causal relationship between certain chromosomal aberrations and the occurrence of isolated idiopathic autism. We report on the clinical and cytogenetic findings in a male patient with autism, no physical abnormalities and a de novo balanced (7;16)(p22.1;p16.2) translocation. G-banded chromosomes and fluorescent in situ hybridization (FISH) were used to examine the patient's karyotype as well as his parents'. FISH with specific RP11-BAC clones mapping near 7p22.1 and 16p11.2 was used to refine the location of the breakpoints. This is, in the best of our knowledge, the first report of an individual with autism and this specific chromosomal aberration.

Autism in Phenylketonuria Patients: From Clinical Presentation to Molecular Defects.

Autism has been reported in untreated patients with phenylketonuria. The authors aimed to explore autism in 15 Tunisian and 4 Algerian phenylketonuria patients, and report their clinical, biochemical and molecular peculiarities. The Childhood Autism Rating Scale and the Autism Diagnostic Interview-Revised were used for the diagnosis of autism. Five exons of phenylalanine hydroxylase gene (7, 6, 10, 11, and 5) were amplified by polymerase chain reaction and directly sequenced. Among these patients, 15 were suffering from autism at the time of evaluation. Six mutations were identified: p.E280K, p.G352Vfs, IVS10nt11, p.I224T, p.R261Q, and p.R252W. There was no correlation between autism and mutations affecting the phenylalanine hydroxylase gene, but the age of diet onset was the determining factor in autistic symptoms' evolution.

[The Usefulness of Clonazepam as an Augmentative Treatment in a Case of Severe Childhood Onset Obsessive-Compulsive Disorder]. / Siddetli Bir Çocukluk Çagi Baslangiçli Obsesif Kompulsif Bozukluk Olgusunda Güçlendirme Tedavisi Olarak Klonazepam.

The goal of this study is to report on the treatment of obsessive-compulsive disorder (OCD), a chronic disabling condition that often presents during childhood and adolescence. Reports on adults using clonazepam for the treatment of OCD are more numerous than on children. Clonazepam as an augmentative treatment in OCD is still controversial. Our aim is to illustrate in a case report the efficacy of clonazepam as an augmentative treatment for severe childhood onset OCD. We report on the case of a young teenage girl with an extremely severe form of obsessive-compulsive disorder (score of 32 on the Children's Yale-Brown Obsessive Compulsive Scale), who, after a mild improvement with a combination of serotonin recapture inhibitors and second generation antipsychotics at high doses, has responded to clonazepam (3mg/day) augmentation of sertraline (200mg/day) and olanzapine (15mg/day). Clonazepam was effective not only in reducing anxiety symptoms, but also in lowering compulsions and obsessions frequency within 6 weeks with a drop in the Children's Yale-Brown Obsessive Compulsive Scale of 16 points. It may be asserted that clonazepam could be useful in the initial stage for severe OCD in young patients.

The creatine transporter gene paralogous at 16p11.2 is expressed in human brain.

Autism is a complex neurodevelopmental disorder characterized by impairment of social interaction, language, communication, and stereotyped, repetitive behavior. Genetic predisposition to autism has been demonstrated in families and twin studies. About 5-10% of autism cases are associated with chromosomal abnormalities or monogenic disorders. The identification of genes involved in the origin of autism is expected to increase our understanding of the pathogenesis. We report on the clinical, cytogenetic, and molecular findings in a boy with autism carrying a de novo translocation t(7;16)(p22.1;p11.2). The chromosome 16 breakpoint disrupts the paralogous SLC6A8 gene also called SLC6A10 or CT2. Predicted translation of exons and RT-PCR analysis reveal specific expression of the creatine transporter paralogous in testis and brain. Several studies reported on the role of X-linked creatine transporter mutations in individuals with mental retardation, with or without autism. The existence of disruption in SLC6A8 paralogous gene associated with idiopathic autism suggests that this gene may be involved in the autistic phenotype in our patient.