A 9-YEAR-OLD-GIRL WITH PHELAN McDERMID SYNDROME, WHO HAD BEEN DIAGNOSED WITH AN AUTISM SPECTRUM DISORDER
Görker I, Gürkan H, Demir Ulusal S, Atlı E, Ikbal Atlı E
*Corresponding Author: Işık Görker, Child and Adolescent Psychiatry Department, Trakya University, Faculty of Medicine, Balkan Yerleskesi, 22030, Edirne, Turkey. Tel: +90-532-355-9277. Fax: +90-284-435-7652. E-mail: isikgorker@gmail.com
page: 85

CASE REPORT

Our case, a 9-year-old girl and the only child of her family who have taken individual training for her social development, was examined at the Child and Adolescent Psychiatry Department, Trakya University, Edirne, Turkey. It was learned that she had been diagnosed with ASD some years ago and had both pharmacotherapy and individual training for her treatment. Our findings were a clinically mild intellectual disability, rounded face, pointed chin and no autistic findings. We learned that her neuromotor development was delayed and she had neonatal hypotonia in her history. The parents had no history of mental disorder or genetic illness. She was born by spontaneous delivery. She weighed 2850 g and was 50 cm long at birth and she was breast-fed by her mother for 18 months. She sat up in her 10th month and walked in her 16th month. Her language development was delayed. Her mother said that she showed head banging behavior between 7 months and 1 year. At 4 years old, she exhibited irritability and aggressive behavior towards her peers and teachers at the crèche she was attending, and risperidone treatment was begun. The intelligence test could not be applied because of her speech problems. She had no history of febrile convulsions. The results of neurological examination and the routine biochemical blood tests were normal. We discontinued her risperidone treatment in order to assess her mental state. Consequently, there was a remanifestation of her aggressive behavior and irritability. Subsequently, the risperidone treatment was restarted and she became stabilized. Then her genetic analyses were examined at the Department of Medical Genetics, Trakya University, Edirne, Turkey. Cytogenetic analysis was performed with GTG-banded chromosomes from cultured lymphocytes. Genomic DNA of the patient was isolated according to the instructions of the manufacturer (EZ1 Advanced Instruments; Qiagen GmbH, Hilden, Germany) from peripheral blood lymphocytes. Genomic regions previously related to mental retardation and possible deletion/duplication regions were analyzed by the multiplex ligation-dependent probe amplification (MLPA) method (MRC-Holland, Amsterdam, The Netherlands), using P064-C1 mental retardation and P373-B1 microdeletion probe mixes, respectively. The DNA concentration of samples was optimized as 50 ng/μL for the array comparative genomic hybridization (aCGH) study. For the aCGH method, SurePrint G3 Human microarrays 8 × 60 K (Agilent Technologies, Palo Alto, CA, USA) were used, according to the manufacturer’s instructions. Microarray slides were scanned with 3 mm resolution in the microarray scanner system (Agilent Technologies). Feature Extraction 12.0.1.1 and Cytogenomics 2.9.2.4 (Agilent Technologies) software was used for the analysis of the samples. The subtelomeric FISH technique was performed using a commercially available set of probes Aquarius® Subtelomere Specific Probe (Cytocell Ltd., Cambridge, Cambridgeshire, UK), according to the manufacturer’s instructions. The probes are targeted to the sub-telomeric regions mostly at a 100-300 kb distance from the end of each of the chromosome arms, excluding the short arms of acrocentric chromosomes.



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