PMID- 32656941
OWN - NLM
STAT- MEDLINE
DCOM- 20220303
LR  - 20220303
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 185
IP  - 12
DP  - 2021 Dec
TI  - 49,XXXXY syndrome: A study of neurological function in this uncommon X and Y 
      chromosomal disorder.
PG  - 3557-3566
LID - 10.1002/ajmg.a.61742 [doi]
AB  - 49,XXXXY is a rare chromosomal variation characterized by deficits in motor, 
      language, and cognitive domains. This study reports on the neurological function 
      and dysmorphic features in the largest cohort to date. Seventy-two boys with 
      49,XXXXY were evaluated on a variety of domains including a neurological 
      examination and neuromotor assessments including the Beery Buktenica 
      Developmental Test of Visual-Motor Integration, Sixth Edition, the Bayley Scales 
      of Infant and Toddler Development, Third Edition (BSID-III), and the 
      Bruininks-Oseretsky Test of Motor Proficiency, Second Edition. Results supported 
      previous literature by describing high occurrences of truncal and extremity 
      hypotonia, which significantly impacts on motor milestones and ambulation in this 
      population. The boys presented with dysmorphic features including epicanthal 
      folds, frontal bossing, and synophrys. Visual perception skills were mildly 
      impaired and cranial nerves were typically intact, however capabilities in motor 
      coordination and fine motor precision were greatly delayed, supporting deficits 
      in refined and controlled hand movements versus widespread visual deficits. 
      Preschool boys treated with testosterone replacement had significantly increased 
      scores when compared to the untreated group on the BSID-III Psychomotor 
      Development Index, further supporting previous research indicating that 
      testosterone replacement may have a positive impact on neurodevelopmental 
      outcomes in males with additional X chromosomes. Boys with 49,XXXXY may benefit 
      from hormonal treatment in conjunction with early intervention services to 
      address their significant motor deficits.
CI  - (c) 2020 Wiley Periodicals LLC.
FAU - Samango-Sprouse, Carole
AU  - Samango-Sprouse C
AUID- ORCID: 0000-0001-9941-0568
AD  - Department of Pediatrics, George Washington University, Washington, District of 
      Columbia, USA.
AD  - Department of Human and Molecular Genetics, Florida International University, 
      Miami, Florida, USA.
AD  - Research, The Focus Foundation, Maryland, USA.
FAU - Lasutschinkow, Patricia C
AU  - Lasutschinkow PC
AUID- ORCID: 0000-0003-0258-1534
AD  - Research, The Focus Foundation, Maryland, USA.
FAU - Mitchell, Francie
AU  - Mitchell F
AD  - Research, The Focus Foundation, Maryland, USA.
FAU - Porter, Grace F
AU  - Porter GF
AD  - Research, The Focus Foundation, Maryland, USA.
FAU - Hendrie, Patricia
AU  - Hendrie P
AD  - Research, The Focus Foundation, Maryland, USA.
FAU - Powell, Sherida
AU  - Powell S
AD  - Department of Economics, George Washington University, Washington, District of 
      Columbia, USA.
FAU - Sadeghin, Teresa
AU  - Sadeghin T
AD  - Research, The Focus Foundation, Maryland, USA.
FAU - Gropman, Andrea
AU  - Gropman A
AD  - Division of Neurogenetics and Developments Pediatrics, Children's National Health 
      System, Washington, District of Columbia, USA.
AD  - Department of Neurology, George Washington University, Washington, District of 
      Columbia, USA.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20200713
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Child Development/physiology
MH  - Child, Preschool
MH  - Chromosomes, Human, X/genetics
MH  - Chromosomes, Human, Y/genetics
MH  - Humans
MH  - Infant
MH  - Klinefelter Syndrome/epidemiology/*genetics/physiopathology
MH  - Language
MH  - Language Development Disorders/epidemiology/*genetics/physiopathology
MH  - Male
MH  - Motor Skills/physiology
MH  - Nervous System Diseases/*genetics/physiopathology
MH  - Sex Chromosome Disorders/*genetics/physiopathology
OTO - NOTNLM
OT  - 49,XXXXY
OT  - X and Y chromosomal variations
OT  - dysmorphology
OT  - neurological function
OT  - neuromotor deficits
OT  - sex chromosome abnormalities and aneuploidies
EDAT- 2020/07/14 06:00
MHDA- 2022/03/04 06:00
CRDT- 2020/07/14 06:00
PHST- 2020/03/31 00:00 [revised]
PHST- 2019/11/14 00:00 [received]
PHST- 2020/06/10 00:00 [accepted]
PHST- 2020/07/14 06:00 [pubmed]
PHST- 2022/03/04 06:00 [medline]
PHST- 2020/07/14 06:00 [entrez]
AID - 10.1002/ajmg.a.61742 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2021 Dec;185(12):3557-3566. doi: 10.1002/ajmg.a.61742. Epub 
      2020 Jul 13.