Year 2018, Volume 12 , Issue 4, Pages 289 - 292 2018-12-30

Fragile X Syndrome: A Genetic Disorder to Consider in Patients with Speech Delay

Tuba ÇELEN YOLDAŞ [1]


spectrum disorder (ASD). Comprehensive and multidisciplinary evaluation of patients with ID or ASD is essential for

prudent management of any probable underlying condition. Herein we report a 4 years and 3 months old boy with

speech delay, previously admitted to other clinics many times without any definite diagnosis. Physical examination

revealed that he had hyperactivity, poor eye contact and dysmorphic features. He had global developmental delay and

symptoms of ASD. The patient who had dysmorphic features was referred to pediatric genetics department with the

suspicion of FXS. Southern Blot analysis revealed CGG repeat expansion in the range of full mutation. Maternal southern

blot analysis revealed expanded CGG repeat in the range of premutation, and the family was given genetic counseling.

The patient is still being followed-up at the developmental pediatrics department with an individual education program

and other supportive treatments.

Children with FXS typically present with developmental delay. Although motor delays are often seen, these tend to be

mild, and affected males most commonly come to hospital because of speech delay as the patient in this case. The

present patient has both FXS and ASD diagnosis. As children with FXS may not have gross physical features, any child

who has developmental delay, borderline intellectual abilities, ID or ASD with an unknown etiology should undergo

molecular testing for fragile X syndrome. It was aimed in this case to emphasize the importance of comprehensive and

multidisciplinary evaluation of all patients referred with speech delay.

Autism spectrum disorder, Fragile X syndrome
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Primary Language en
Subjects General and Internal Medicine
Journal Section Case Report
Authors

Author: Tuba ÇELEN YOLDAŞ (Primary Author)

Dates

Publication Date : December 30, 2018

Bibtex @case report { tchd551693, journal = {Türkiye Çocuk Hastalıkları Dergisi}, issn = {1307-4490}, eissn = {2148-3566}, address = {Şehit Ömer Halisdemir Cad. Kurtdereli Sok. No:10 ANKARA}, publisher = {University of Health Sciences}, year = {2018}, volume = {12}, pages = {289 - 292}, doi = {10.12956/tjpd.2018.359}, title = {Fragile X Syndrome: A Genetic Disorder to Consider in Patients with Speech Delay}, key = {cite}, author = {ÇELEN YOLDAŞ, Tuba} }
APA ÇELEN YOLDAŞ, T . (2018). Fragile X Syndrome: A Genetic Disorder to Consider in Patients with Speech Delay. Türkiye Çocuk Hastalıkları Dergisi , 12 (4) , 289-292 . DOI: 10.12956/tjpd.2018.359
MLA ÇELEN YOLDAŞ, T . "Fragile X Syndrome: A Genetic Disorder to Consider in Patients with Speech Delay". Türkiye Çocuk Hastalıkları Dergisi 12 (2018 ): 289-292 <https://dergipark.org.tr/en/pub/tchd/issue/44483/551693>
Chicago ÇELEN YOLDAŞ, T . "Fragile X Syndrome: A Genetic Disorder to Consider in Patients with Speech Delay". Türkiye Çocuk Hastalıkları Dergisi 12 (2018 ): 289-292
RIS TY - JOUR T1 - Fragile X Syndrome: A Genetic Disorder to Consider in Patients with Speech Delay AU - Tuba ÇELEN YOLDAŞ Y1 - 2018 PY - 2018 N1 - doi: 10.12956/tjpd.2018.359 DO - 10.12956/tjpd.2018.359 T2 - Türkiye Çocuk Hastalıkları Dergisi JF - Journal JO - JOR SP - 289 EP - 292 VL - 12 IS - 4 SN - 1307-4490-2148-3566 M3 - doi: 10.12956/tjpd.2018.359 UR - https://doi.org/10.12956/tjpd.2018.359 Y2 - 2020 ER -
EndNote %0 Türkiye Çocuk Hastalıkları Dergisi Fragile X Syndrome: A Genetic Disorder to Consider in Patients with Speech Delay %A Tuba ÇELEN YOLDAŞ %T Fragile X Syndrome: A Genetic Disorder to Consider in Patients with Speech Delay %D 2018 %J Türkiye Çocuk Hastalıkları Dergisi %P 1307-4490-2148-3566 %V 12 %N 4 %R doi: 10.12956/tjpd.2018.359 %U 10.12956/tjpd.2018.359
ISNAD ÇELEN YOLDAŞ, Tuba . "Fragile X Syndrome: A Genetic Disorder to Consider in Patients with Speech Delay". Türkiye Çocuk Hastalıkları Dergisi 12 / 4 (December 2019): 289-292 . https://doi.org/10.12956/tjpd.2018.359
AMA ÇELEN YOLDAŞ T . Fragile X Syndrome: A Genetic Disorder to Consider in Patients with Speech Delay. Türkiye Çocuk Hast Derg. 2018; 12(4): 289-292.
Vancouver ÇELEN YOLDAŞ T . Fragile X Syndrome: A Genetic Disorder to Consider in Patients with Speech Delay. Türkiye Çocuk Hastalıkları Dergisi. 2018; 12(4): 292-289.