• Kabuki syndrome as the cause of genetically determined delay of movement and mental development and autism spectrum disorders

Kabuki syndrome as the cause of genetically determined delay of movement and mental development and autism spectrum disorders

PERINATOLOGIYA I PEDIATRIYA. 2017.1(69):103-108; doi 10.15574/PP.2017.69.103

Kabuki syndrome as the cause of genetically determined delay of movement and mental development and autism spectrum disorders

Kyrylova L., Yuzva O., Miroshnykov O., Radzihovska O.
SI «Institute of Pediatrics, Obstetrics and Gynecology of NAMS of Ukraine», Kyiv

The National Children Specialized Hospital «OHMATDET», Kyiv, Ukraine

Kabuki syndrome is a rare non+progressive genetic disease and characterized by a combination of phenotypic traits. The main symptoms of the pathology are facial features that resemble the make-up of Kabuki actors, mental retardation, delay of speech and movement development, postnatal growth retardation, skeletal abnormalities, dermatoglyphic features, and can also be symptoms of autism spectrum disorder. Patients with this disease can attract attention of pediatricians, as well as others specialists such as neurologists, psychiatrists, orthopedists, endocrinologists. Herein we presented the case that illustrates the diagnostic complexity of autism spectrum disorder in children. Autism spectrum disorder in most cases can occur in the structure of genetic syndromes or other rare diseases. A detailed examination of the child with symptoms of autism spectrum disorder can help in establishing the correct diagnosis, tactics of follow+up and patient rehabilitation.

Key words: Kabuki syndrome, orphan disease, autism spectrum disorder, delay of movement and mental development.

References

1. Pro vnesennia zmin do Osnov zakonodavstva Ukrainy pro okhoronu zdorovia shchodo zabezpechennia profilaktyky ta likuvannia ridkisnykh (orfannykh) zakhvoriuvan: Zakon Ukrainy vid 15.04.2014 r. № 1213-VII. Vidomosti Verkhovnoi Rady (VVR). 2014. № 26. St. 894.

2. Sertcelik M et al. 2016. A Child with Kabuki Syndrome and Autism Spectrum Disorder. Arch Neuropsychiatry. 53: 280—282. https://doi.org/10.5152/npa.2015.10099; PMid:28373809 PMCid:PMC5378211

3. Verrotti et al. 2011, Oct. A Long-term outcome of epilepsy in Kabuki syndrome. Seizure. 20(8): 650—654. https://doi.org/10.1016/j.seizure.2011.06.005. Epub 2011 Jul 7.

4. Jun Lu, Guiling Mo, Yaojun Ling, Lijuan Ji. 2016, Oct. A novel KMT2D mutation resulting in Kabuki syndrome: a case report. Mol Med Rep. 14(4): 3641—3645. https://doi.org/10.3892/mmr.2016.5683

5. Priolo M, Micale L, Augello B et al. 2012, Nov. Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome. Mol Genet Metab. 107(3): 627—629. https://doi.org/10.1016/j.ymgme.2012.06.019; PMid:22840376

6. Kasdon BD. 2012, Sep. Kabuki syndrome: diagnostic and treatment considerations. Ment Health Fam Med. 9(3): 171—179. PMid:23997823 PMCid:PMC3622909

7. Bogershausen N, Wollnik B. 2013. Unmasking Kabuki syndrome. Clin Genet. 83: 201—211. https://doi.org/10.1111/cge.12051; PMid:23131014

8. Bokinni Y. 2012, Apr. Kabuki syndrome revisited. J Hum Genet. 57(4): 223—227. https://doi.org/10.1038/jhg.2012.28; PMid:22437206

9. Defloor T, van Borsel J et al. 2005. Expressive language in children with Kabuki syndrome. Am J Med Genet A. 132A: 256—259. https://doi.org/10.1002/ajmg.a.30333; PMid:15578615

10. Courtens W, Rassart A, Stene J-J, Vamos E. 2000. Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome. Am J Med Genet. 93: 244—249. https://doi.org/10.1002/1096-8628(20000731)93:3<244::AID-AJMG17>3.0.CO;2-2

11. Schott DA et al. 2016, Sep 21. Growth Hormone Stimulation Tests in Children with Kabuki Syndrome. Horm Res Paediatr. https://doi.org/10.1159/000449221; PMid:27649541

12. Banka S, Veeramachaneni R et al. 2012. How genetically heterogeneous is Kabuki syndrome? MLL2 testing in 116 patients, review, and analyses of mutation and phenotypic spectrum. Eur J Hum Genet. 20: 381—388. https://doi.org/10.1038/ejhg.2011.220; PMid:22126750 PMCid:PMC3306863

13. Niikawa N, Kuroki Y et al. 1988. Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients. Am J Med Genet. 31: 565—589. https://doi.org/10.1002/ajmg.1320310312; PMid:3067577

14. Van Laarhoven PM, Neitzel LR et al. 2015. Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. Hum Molec Genet. 24: 4443—4453. https://doi.org/10.1093/hmg/ddv180; PMid:25972376 PMCid:PMC4492403

15. Borovikova NY, Borovikov KS, Mukhin KY, Mironov MB. 2011. Kabuki syndrome with epilepsy: clinical case. Epilepsy and Paroxismal Statuses. 3(4): 8—13.

16. Miyake N, Mizuno S, Okamoto N et al. 2013, Jan. KDM6A point mutations cause Kabuki syndrome. Hum Mutat. 34(1): 108—110. https://doi.org/10.1002/humu.22229; PMid:23076834

17. Lederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I. 2014, May. A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. Am J Med Genet A. 164A(5): 1289—1292. https://doi.org/10.1002/ajmg.a.36442; PMid:24664873

18. Folan L. 2012. Stars of the Tokyo stage. Natori Shunsen's Kabuki actor prints. University of Washington Press: 114. PMid:22527331

19. McCabe C, Claxton K, Tsuchiya A. 2005, Oct 29. Orphan drugs and the NHS: should we value rarity? BMJ. 331(7523): 1016—1019. https://doi.org/10.1136/bmj.331.7523.1016; PMid:16254305 PMCid:PMC1273462

20. Miyake N, Koshimizu E, Okamoto N et al. 2013, Sep. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A. 161A(9): 2234—2243. https://doi.org/10.1002/ajmg.a.36072; PMid:23913813

21. Micale L et al. 2014. Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. Hum Mutat. 35: 841—850. https://doi.org/10.1002/humu.22547; PMid:24633898 PMCid:PMC4234006

22. Parisi L, Di Filippo T, Roccella M. 2015, Aug. Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases. Minerva Pediatr. 67(4): 369—375. PMid:26129805

23. Puiu M, Dorica D. 2010, Apr. Rare diseases, from European resolutions and recommendations to actual measures and strategies. Maedica (Buchar). 5(2): 128—131.

24. Yevtyshenko SK. 2011.On the anniversary our teacher. International Neurological Journal. 2(40).