Diagnostics of the genetic causes of autism spectrum disorders – a clinical geneticist’s view
Journal Title: Psychiatria Polska - Year 2014, Vol 48, Issue 4
Abstract
Explanation of the genetic basis of autism spectrum disorders has, for many decades, been a part of interest of researchers and clinicians. In recent years, thanks to modern molecular and cytogenetic techniques, a significant progress has been achieved in the diagnosis of genetic causes of autism. This applies particularly, but not exclusively, to those cases of autism that are accompanied by other clinical signs (i. e. complex phenotypes). The important clinical markers belong to different categories, and include congenital defects/anomalies, dysmorphism and macro-/microcephaly, to name the few. Thus, the choice of the diagnostic strategy depends on the clinical and pedigree information and, under Polish circumstances, the availability of specific diagnostic techniques and the amount of reimbursement under the National Health Service. Overall, the identification of the genetic causes of autism spectrum disorders is possible in about 10-30% of patients. In this paper the practical aspects of the use of different diagnostic techniques are briefly described. Some clinical examples and current recommendations for the diagnosis of patients with autism spectrum disorders are also presented. The point of view of a specialist in clinical genetics, increasingly involved, as part of the multidisciplinary care team, in the diagnostics of an autistic child has been demonstrated.
Authors and Affiliations
Krzysztof Szczaluba
Keywords
Related Articles
- EP ID EP126928
- DOI -
- Views 110
- Downloads 0
The evolution of the canons law code and the mental nature reasons of marital incapacity during the last 25 years
Aim. The aim of the article was to investigate how during the last 25 years of implementation of the new canons law code changed the use of these new law regulations by the church lawyers as well as the mental causes for...
Dysfunkcje seksualne mężczyzn nieheteroseksualnych – analiza i krytyka piśmiennictwa
Celem pracy jest przedstawienie wyników i omówienie metodyki dotychczas podjętych badań nad dysfunkcjami seksualnymi mężczyzn nieheteroseksualnych (MNH) wraz ze sformułowaniem wniosków dla przyszłych projektów badawczych...
Zespół uporczywego pobudzenia genitaliów – opis przypadku
The persistent genital arousal disorder (PGAD) may coexist with restless legs syndrome and overactive bladder syndrome and share some similarities with these conditions. Thus, the new term: restless genital syndrome (RGS...
Will new diagnostic criteria facilitate the diagnostic process of ADHD in adults?
ADHD is traditionally described as a pediatric disorder. According to contemporary knowledge in around 60% of children suffering from ADHD symptoms of the disorder persist into adulthood. The epidemiological data show th...
Sexual dysfunction in men in the first 9 months after myocardial infarction
Objectives. The aim of the study is to assess the frequency of sexual dysfunction in men after myocardial infarction (MI). Methods. 62 men were asked to fill IIEF 15 to assess sexual dysfunction 3 and 9 months after MI...