Behavioral and psychiatric manifestations in Cornelia de Lange syndrome

Marco A. Grados, Mustafa H. Alvi, Siddharth Srivastava

Research output: Research - peer-reviewReview article

Abstract

Purpose of review Cornelia de Lange syndrome (CdLS) is a rare genetic syndrome with clinical manifestations due to multiple affected organ systems including limbs, gastrointestinal, skin, and central nervous systems. Although the genetic basis of CdLS is now uncovered, how behavioral manifestations are associated with genetic and brain differences are less well understood. The current focused review systematically describes the main behavioral observations to date in individuals with CdLS, which have a significant impact on quality of life and adaptive functioning. Recent findings The CdLS behavioral phenotype includes autistic traits as a prominent feature; however, brain imaging studies, required to understand gene-brain-behavior connections in CdLS, are scarce. Moreover, autistic features in CdLS have a greater emphasis on repetitive behaviors, including self-injurious behaviors (SIB) and expressive communication deficits, different that the core social deficit seen in idiopathic autism. Current data strongly support the use of CdLS as a model disease for repetitive behaviors and associated developmental delay manifestations. Summary Behavioral phenotype characteristics in CdLS point to a preponderance of repetitive clinical phenomena as well as expressive verbal deficits that ought to inform specific treatment approaches in CdLS. In particular, repetitive behaviors associated with self-injury are of high negative impact on the quality of life for individuals with CdLS and their families. Treatment approaches geared to manage repetitive behaviors and self-injurious behaviors in CdLS are required in this developmental condition.

LanguageEnglish (US)
Pages92-96
Number of pages5
JournalCurrent Opinion in Psychiatry
Volume30
Issue number2
DOIs
StatePublished - 2017

Fingerprint

De Lange Syndrome
Psychiatry
Self-Injurious Behavior
Quality of Life
Phenotype
Brain
Therapeutics
Autistic Disorder
Neuroimaging
Extremities
Central Nervous System
Communication
Skin
Wounds and Injuries
Genes
Behavior Observation Techniques

Keywords

  • Anxiety
  • Repetitive behaviors
  • Self-injury
  • Sleep problems

ASJC Scopus subject areas

  • Psychiatry and Mental health

Cite this

Behavioral and psychiatric manifestations in Cornelia de Lange syndrome. / Grados, Marco A.; Alvi, Mustafa H.; Srivastava, Siddharth.

In: Current Opinion in Psychiatry, Vol. 30, No. 2, 2017, p. 92-96.

Research output: Research - peer-reviewReview article

Grados, Marco A. ; Alvi, Mustafa H. ; Srivastava, Siddharth. / Behavioral and psychiatric manifestations in Cornelia de Lange syndrome. In: Current Opinion in Psychiatry. 2017 ; Vol. 30, No. 2. pp. 92-96
@article{02cc617a5b5d40949a59402b6b980aca,
title = "Behavioral and psychiatric manifestations in Cornelia de Lange syndrome",
abstract = "Purpose of review Cornelia de Lange syndrome (CdLS) is a rare genetic syndrome with clinical manifestations due to multiple affected organ systems including limbs, gastrointestinal, skin, and central nervous systems. Although the genetic basis of CdLS is now uncovered, how behavioral manifestations are associated with genetic and brain differences are less well understood. The current focused review systematically describes the main behavioral observations to date in individuals with CdLS, which have a significant impact on quality of life and adaptive functioning. Recent findings The CdLS behavioral phenotype includes autistic traits as a prominent feature; however, brain imaging studies, required to understand gene-brain-behavior connections in CdLS, are scarce. Moreover, autistic features in CdLS have a greater emphasis on repetitive behaviors, including self-injurious behaviors (SIB) and expressive communication deficits, different that the core social deficit seen in idiopathic autism. Current data strongly support the use of CdLS as a model disease for repetitive behaviors and associated developmental delay manifestations. Summary Behavioral phenotype characteristics in CdLS point to a preponderance of repetitive clinical phenomena as well as expressive verbal deficits that ought to inform specific treatment approaches in CdLS. In particular, repetitive behaviors associated with self-injury are of high negative impact on the quality of life for individuals with CdLS and their families. Treatment approaches geared to manage repetitive behaviors and self-injurious behaviors in CdLS are required in this developmental condition.",
keywords = "Anxiety, Repetitive behaviors, Self-injury, Sleep problems",
author = "Grados, {Marco A.} and Alvi, {Mustafa H.} and Siddharth Srivastava",
year = "2017",
doi = "10.1097/YCO.0000000000000311",
volume = "30",
pages = "92--96",
journal = "Current Opinion in Psychiatry",
issn = "0951-7367",
publisher = "Lippincott Williams and Wilkins",
number = "2",

}

TY - JOUR

T1 - Behavioral and psychiatric manifestations in Cornelia de Lange syndrome

AU - Grados,Marco A.

AU - Alvi,Mustafa H.

AU - Srivastava,Siddharth

PY - 2017

Y1 - 2017

N2 - Purpose of review Cornelia de Lange syndrome (CdLS) is a rare genetic syndrome with clinical manifestations due to multiple affected organ systems including limbs, gastrointestinal, skin, and central nervous systems. Although the genetic basis of CdLS is now uncovered, how behavioral manifestations are associated with genetic and brain differences are less well understood. The current focused review systematically describes the main behavioral observations to date in individuals with CdLS, which have a significant impact on quality of life and adaptive functioning. Recent findings The CdLS behavioral phenotype includes autistic traits as a prominent feature; however, brain imaging studies, required to understand gene-brain-behavior connections in CdLS, are scarce. Moreover, autistic features in CdLS have a greater emphasis on repetitive behaviors, including self-injurious behaviors (SIB) and expressive communication deficits, different that the core social deficit seen in idiopathic autism. Current data strongly support the use of CdLS as a model disease for repetitive behaviors and associated developmental delay manifestations. Summary Behavioral phenotype characteristics in CdLS point to a preponderance of repetitive clinical phenomena as well as expressive verbal deficits that ought to inform specific treatment approaches in CdLS. In particular, repetitive behaviors associated with self-injury are of high negative impact on the quality of life for individuals with CdLS and their families. Treatment approaches geared to manage repetitive behaviors and self-injurious behaviors in CdLS are required in this developmental condition.

AB - Purpose of review Cornelia de Lange syndrome (CdLS) is a rare genetic syndrome with clinical manifestations due to multiple affected organ systems including limbs, gastrointestinal, skin, and central nervous systems. Although the genetic basis of CdLS is now uncovered, how behavioral manifestations are associated with genetic and brain differences are less well understood. The current focused review systematically describes the main behavioral observations to date in individuals with CdLS, which have a significant impact on quality of life and adaptive functioning. Recent findings The CdLS behavioral phenotype includes autistic traits as a prominent feature; however, brain imaging studies, required to understand gene-brain-behavior connections in CdLS, are scarce. Moreover, autistic features in CdLS have a greater emphasis on repetitive behaviors, including self-injurious behaviors (SIB) and expressive communication deficits, different that the core social deficit seen in idiopathic autism. Current data strongly support the use of CdLS as a model disease for repetitive behaviors and associated developmental delay manifestations. Summary Behavioral phenotype characteristics in CdLS point to a preponderance of repetitive clinical phenomena as well as expressive verbal deficits that ought to inform specific treatment approaches in CdLS. In particular, repetitive behaviors associated with self-injury are of high negative impact on the quality of life for individuals with CdLS and their families. Treatment approaches geared to manage repetitive behaviors and self-injurious behaviors in CdLS are required in this developmental condition.

KW - Anxiety

KW - Repetitive behaviors

KW - Self-injury

KW - Sleep problems

UR - http://www.scopus.com/inward/record.url?scp=85012297123&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85012297123&partnerID=8YFLogxK

U2 - 10.1097/YCO.0000000000000311

DO - 10.1097/YCO.0000000000000311

M3 - Review article

VL - 30

SP - 92

EP - 96

JO - Current Opinion in Psychiatry

T2 - Current Opinion in Psychiatry

JF - Current Opinion in Psychiatry

SN - 0951-7367

IS - 2

ER -