Communication disorders in the 22q11.2 microdeletion syndrome

被引：57

作者：

Solot, CB

Knightly, C

Handler, SD

Gerdes, M

McDonald-McGinn, DM

Moss, E

Wang, P

Cohen, M

Randall, P

Larossa, D

Driscoll, DA

Emanuel, BS

Zackai, EH

机构：

[1] Childrens Hosp Philadelphia, Dept Commun Disorders, Philadelphia, PA 19104 USA

[2] Childrens Hosp Philadelphia, Div Otolaryngol & Human Commun, Philadelphia, PA 19104 USA

[3] Childrens Hosp Philadelphia, Dept Pediat Psychol, Philadelphia, PA 19104 USA

[4] Childrens Hosp Philadelphia, Div Child Dev & Rehabil, Philadelphia, PA 19104 USA

[5] Childrens Hosp, Dept Pediat, Philadelphia, PA 19104 USA

[6] Childrens Hosp, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

[7] Childrens Hosp Philadelphia, Div Child Dev & Rehabil, Dept Pediat, Philadelphia, PA 19104 USA

[8] Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA

[9] Childrens Hosp Philadelphia, Div Plast & Reconstruct Surg, Philadelphia, PA 19104 USA

[10] Univ Penn, Sch Med, Dept Surg, Philadelphia, PA 19104 USA

[11] Univ Penn, Sch Med, Dept Obstet & Gynecol, Philadelphia, PA 19104 USA

来源：

JOURNAL OF COMMUNICATION DISORDERS | 2000年 / 33卷 / 03期

关键词：

resonance; voice; language; speech; hearing;

D O I：

10.1016/S0021-9924(00)00018-6

中图分类号：

R36 [病理学]; R76 [耳鼻咽喉科学];

学科分类号：

100104 ; 100213 ;

摘要：

The 22q11.2 microdeletion syndrome is a genetic disorder that is being recognized with increasing frequency. Confirmation of the diagnosis can be made using fluorescence in situ hybridization, Many medical and developmental problems are present in children with this syndrome. Communication disorders are among the most common features of this syndrome and include articulation, language, resonance, and voice problems. The purpose of this paper is to provide a description of the communicative and developmental features in a sample of children with the 22q11.2 microdeletion syndrome seen for evaluation. Because communication and feeding disorders may be presenting features of this syndrome, speech and language pathologists must be familiar with this syndrome and its various characteristics. Awareness of these features and a multidisciplinary approach are necessary for the identification and treatment of the complex communicative and medical problems present in this population. (C) 2000 by Elsevier Science Inc.

引用

页码：187 / 204

页数：18

共 40 条

[1] OTOLOGIC PROBLEMS IN SUBMUCOUS CLEFT PALATE [J].

BERGSTROM, L ;

HEMENWAY, WG .

SOUTHERN MEDICAL JOURNAL, 1971, 64 (10) :1172-+

[2]

Bingham PM, 1997, AM J MED GENET, V74, P538, DOI 10.1002/(SICI)1096-8628(19970919)74:5<538::AID-AJMG17>3.0.CO

[3]

2-D

[4]

Broen PA, 1996, CLEFT PALATE-CRAN J, V33, P127, DOI 10.1597/1545-1569(1996)033<0127:COTHHO>2.3.CO

[5]

[6] IDENTIFICATION OF A PATIENT WITH BERNARD-SOULIER SYNDROME AND A DELETION IN THE DIGEORGE/VELO-CARDIO-FACIAL CHROMOSOMAL REGION IN 22Q11.2 [J].

BUDARF, ML ;

KONKLE, BA ;

LUDLOW, LB ;

MICHAUD, D ;

LI, MG ;

YAMASHIRO, DJ ;

MCDONALDMCGINN, D ;

ZACKAI, EH ;

DRISCOLL, DA .

HUMAN MOLECULAR GENETICS, 1995, 4 (04) :763-766

[7]

BURN J, 1993, EMERY RIMOINS PRINCI, V1, P767

[8] DELETIONS AND MICRODELETIONS OF 22Q11.2 IN VELO-CARDIO-FACIAL SYNDROME [J].

DRISCOLL, DA ;

SPINNER, NB ;

BUDARF, ML ;

MCDONALDMCGINN, DM ;

ZACKAI, EH ;

GOLDBERG, RB ;

SHPRINTZEN, RJ ;

SAAL, HM ;

ZONANA, J ;

JONES, MC ;

MASCARELLO, JT ;

EMANUEL, BS .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (02) :261-268

[9]

DRISCOLL DA, 1992, AM J HUM GENET, V50, P924

[10] PREVALENCE OF 22Q11 MICRODELETIONS IN DIGEORGE AND VELOCARDIOFACIAL SYNDROMES - IMPLICATIONS FOR GENETIC-COUNSELING AND PRENATAL-DIAGNOSIS [J].

DRISCOLL, DA ;

SALVIN, J ;

SELLINGER, B ;

BUDARF, ML ;

MCDONALDMCGINN, DM ;

ZACKAI, EH ;

EMANUEL, BS .

JOURNAL OF MEDICAL GENETICS, 1993, 30 (10) :813-817

← 1 2 3 4 →