Genetic Approach to Diagnosis of Intellectual Disability

被引：8

作者：

Puri, Ratna Dua ^{[1
]}

Tuteja, Moni ^{[1
]}

Verma, I. C. ^{[1
]}

机构：

[1] Ganga Ram Inst Postgrad Med Res & Educ, Inst Med Genet & Genom, Sir Ganga Ram Hosp, New Delhi 110060, India

来源：

INDIAN JOURNAL OF PEDIATRICS | 2016年 / 83卷 / 10期

关键词：

Intellectual disability; Etiology; Microarray; Metabolic; Single gene disorders; Next generation sequencing; IDIOPATHIC MENTAL-RETARDATION; GLOBAL DEVELOPMENTAL DELAY; MAGNETIC-RESONANCE SPECTROSCOPY; QUALITY-STANDARDS-SUBCOMMITTEE; CHILD-NEUROLOGY-SOCIETY; FRAGILE-X-SYNDROME; NEURODEVELOPMENTAL DISORDERS; MOLECULAR DIAGNOSIS; PRACTICE-COMMITTEE; MEDICAL GENETICS;

D O I：

10.1007/s12098-016-2205-0

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Intellectual disability is a non-specific phenotype present in a genetically heterogeneous group of disorders. It is characterized by deficits in intellectual and adaptive functioning, presenting before 18 y of age. Identifying the cause of ID is important to provide treatment where available, genetic counseling, recurrence risks and reproductive options for subsequent pregnancies. Advances in technology, especially next generation sequencing and microarrays, have greatly increased the diagnostic yield of evaluation in cases of ID. This paper describes the points in history taking and examination in the evaluation of a proband, and discusses the proper use of newer diagnostic technologies.

引用

页码：1141 / 1149

页数：9

共 46 条

[1] Screening for congenital hypothyroidism in cognitively delayed children [J].

Al-Qudah, AA .

ANNALS OF TROPICAL PAEDIATRICS, 1998, 18 (04) :285-288

[2] Magnetic Resonance Imaging (MRI) Evaluation of Developmental Delay in Pediatric Patients [J].

Ali, Althaf S. ;

Syed, Naziya P. ;

Murthy, G. S. N. ;

Nori, Madhavi ;

Abkari, Anand ;

Pooja, B. K. ;

Venkateswarlu, J. .

JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2015, 9 (01) :TC21-TC24

[3]

[Anonymous], 2013, Diagnostic and statistical manual of mental disorders

[4] FISH screening for subtelomeric rearrangements in 219 patients with idiopathic mental retardation and normal karyotype [J].

Baroncini, A ;

Rivieri, F ;

Capucci, A ;

Croci, G ;

Franchi, F ;

Sensi, A ;

Battaglia, P ;

Aiello, V ;

Calzolari, E .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2005, 48 (04) :388-396

[5]

Bouhadiba Z, 2000, J RADIOL, V81, P870

[6] Mental Retardation: Is Naming the Real Issue? [J].

Chiurazzi, Pietro .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (05) :974-975

[7] Reciprocal translocations:: a trap for cytogenetists? [J].

Ciccone, R ;

Giorda, R ;

Gregato, G ;

Guerrini, R ;

Giglio, S ;

Carrozzo, R ;

Bonaglia, M ;

Priolo, E ;

Laganà, C ;

Tenconi, R ;

Rocchi, M ;

Pramparo, T ;

Zuffardi, O ;

Rossi, E .

HUMAN GENETICS, 2005, 117 (06) :571-582

[8] Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA [J].

Coffee, Bradford ;

Keith, Krayton ;

Albizua, Igor ;

Malone, Tamika ;

Mowrey, Julie ;

Sherman, Stephanie L. ;

Warren, Stephen T. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (04) :503-514

[9] Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability [J].

de Ligt, Joep ;

Willemsen, Marjolein H. ;

van Bon, Bregje W. M. ;

Kleefstra, Tjitske ;

Yntema, Helger G. ;

Kroes, Thessa ;

Vulto-van Silfhout, Anneke T. ;

Koolen, David A. ;

de Vries, Petra ;

Gilissen, Christian ;

del Rosario, Marisol ;

Hoischen, Alexander ;

Scheffer, Hans ;

de Vries, Bert B. A. ;

Brunner, Han G. ;

Veltman, Joris A. ;

Vissers, Lisenka E. L. M. .

NEW ENGLAND JOURNAL OF MEDICINE, 2012, 367 (20) :1921-1929

[10]

Devriendt K, 2003, GENET COUNSEL, V14, P125

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