Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression

Intrafamilial variability in the clinical expression of familial hypercholesterolemia: importance of risk factor determination for genetic counselling

Clinical Genetics ◽

10.1111/j.1399-0004.1993.tb03821.x ◽

2008 ◽

Vol 43 (6) ◽

pp. 295-299 ◽

Cited By ~ 21

Author(s):

M. J. Kotze ◽

H. J. Davis ◽

S. Bissbort ◽

E. Langenhoven ◽

J. Brusnicky ◽

...

Keyword(s):

Risk Factor ◽

Familial Hypercholesterolemia ◽

Genetic Counselling ◽

Clinical Expression ◽

Intrafamilial Variability

Download Full-text

Interfamilial and Intrafamilial Variability of Clinical Expression in ADPKD1

Contributions to Nephrology - Autosomal Dominant Polycystic Kidney Disease ◽

10.1159/000424402 ◽

2015 ◽

pp. 97-101 ◽

Cited By ~ 10

Author(s):

R. Torra ◽

A. Darnell ◽

X. Estivill ◽

A. Botey ◽

L. Revert

Keyword(s):

Clinical Expression ◽

Intrafamilial Variability

Download Full-text

Surgical Management of Patients With 22q11.2 Deletion Syndrome

Perspectives of the ASHA Special Interest Groups ◽

10.1044/2019_pers-sig5-2019-0004 ◽

2019 ◽

Vol 4 (5) ◽

pp. 857-869

Author(s):

Oksana A. Jackson ◽

Alison E. Kaye

Keyword(s):

Surgical Management ◽

Preoperative Evaluation ◽

Preoperative Assessment ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Surgical Decision ◽

Obstructive Sleep ◽

Spine Abnormalities ◽

Speech Assessment

Purpose The purpose of this tutorial was to describe the surgical management of palate-related abnormalities associated with 22q11.2 deletion syndrome. Craniofacial differences in 22q11.2 deletion syndrome may include overt or occult clefting of the palate and/or lip along with oropharyngeal variances that may lead to velopharyngeal dysfunction. This chapter will describe these circumstances, including incidence, diagnosis, and indications for surgical intervention. Speech assessment and imaging of the velopharyngeal system will be discussed as it relates to preoperative evaluation and surgical decision making. Important for patients with 22q11.2 deletion syndrome is appropriate preoperative screening to assess for internal carotid artery positioning, cervical spine abnormalities, and obstructive sleep apnea. Timing of surgery as well as different techniques, common complications, and outcomes will also be discussed. Conclusion Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome is challenging and requires thoughtful preoperative assessment and planning as well as a careful surgical technique.

Download Full-text

Psychosocial Risks and Management for Children and Adolescents With 22q11.2 Deletion Syndrome

Perspectives of the ASHA Special Interest Groups ◽

10.1044/2019_pers-sig5-2019-0002 ◽

2019 ◽

Vol 4 (4) ◽

pp. 633-640 ◽

Cited By ~ 1

Author(s):

Canice E. Crerand ◽

Ari N. Rabkin

Keyword(s):

Cognitive Abilities ◽

Psychotic Disorders ◽

Developmental Stages ◽

Early Adulthood ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Psychosocial Risks ◽

Empirically Supported ◽

Specific Education

Purpose This article reviews the psychosocial risks associated with 22q11.2 deletion syndrome, a relatively common genetic condition associated with a range of physical and psychiatric problems. Risks associated with developmental stages from infancy through adolescence and early adulthood are described, including developmental, learning, and intellectual disabilities as well as psychiatric disorders including anxiety, mood, and psychotic disorders. Other risks related to coping with health problems and related treatments are also detailed for both affected individuals and their families. Conclusion The article ends with strategies for addressing psychosocial risks including provision of condition-specific education, enhancement of social support, routine assessment of cognitive abilities, regular mental health screening, and referrals for empirically supported psychiatric and psychological treatments.

Download Full-text