The Danish 22q11 research initiative

Henriette Schmock; Anders Vangkilde; Kit Melissa Larsen; Elvira Fischer; Michelle Rosgaard Birknow; Jens Richardt Møllegaard Jepsen; Charlotte Olesen; Flemming Skovby; Kerstin Jessica Plessen; Morten Mørup; Ollie Hulme; William Frans Christiaan Baaré; Michael Didriksen; Hartwig Roman Siebner; Thomas Werge; Line Olsen

doi:10.1186/s12888-015-0594-7

The Danish 22q11 research initiative

Henriette Schmock, Anders Vangkilde, Kit Melissa Larsen, Elvira Fischer, Michelle Rosgaard Birknow, Jens Richardt Møllegaard Jepsen, Charlotte Olesen, Flemming Skovby, Kerstin Jessica Plessen, Morten Mørup, Ollie Hulme, William Frans Christiaan Baaré, Michael Didriksen, Hartwig Roman Siebner, Thomas Werge, Line Olsen

Department of Clinical Medicine

7 Citations (Scopus)

Abstract

BACKGROUND: Neurodevelopmental brain disorders such as schizophrenia, autism and attention deficit hyperactivity disorder are complex disorders with heterogeneous etiologies. Schizophrenia and autism are difficult to treat and often cause major individual suffering largely owing to our limited understanding of the disease biology. Thus our understanding of the biological pathogenesis needs to be substantiated to enable development of more targeted treatment options with improved efficacy. Insights into the pre-morbid disease dynamics, the morbid condition and the underlying biological disease mechanisms may come from studies of subjects with homogenous etiologies. Breakthroughs in psychiatric genetics have shown that several genetic anomalies predispose for neurodevelopmental brain disorders. We have established a Danish research initiative to study the common microdeletion at chromosome 22q11.2, which is one of the genetic anomalies that confer high risk of schizophrenia, autism and attention deficit hyperactivity disorder.

METHODS/DESIGN: The study applies a "cause-to-outcome" strategy to identify pre-morbid pathogenesis and underlying biological disease mechanisms of psychosis and secondarily the morbid condition of autism and attention deficit hyperactivity disorder. We use a population based epidemiological design to inform on disease prevalence, environmental risk factors and familial disposition for mental health disorders and a case control study design to map the functional effects across behavioral and neurophysiological traits of the 22q11 deletion in a recruited sample of Danish individuals.

DISCUSSION: Identification of predictive pre-morbid clinical, cognitive, functional and structural brain alterations in 22q11 deletion carriers may alter current clinical practice from symptomatic therapy of manifest mental illness into early intervention strategies, which may also be applicable to at risk subjects without known etiology. Hopefully new insights into the biological disease mechanisms, which are mandatory for novel drug developments, can improve the outcome of the pharmacological interventions in psychiatry.

Original language	English
Article number	220
Journal	B M C Psychiatry
Volume	15
Pages (from-to)	1-12
ISSN	1471-244X
DOIs	https://doi.org/10.1186/s12888-015-0594-7
Publication status	Published - 17 Sept 2015

Keywords

Attention Deficit Disorder with Hyperactivity
Autistic Disorder
Case-Control Studies
Child
Child Health Services
Chromosome Aberrations
Chromosomes, Human, Pair 22
Denmark
Humans
Mental Health Services
Research Design
Schizophrenia

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1186/s12888-015-0594-7

Cite this

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title = "The Danish 22q11 research initiative",

abstract = "BACKGROUND: Neurodevelopmental brain disorders such as schizophrenia, autism and attention deficit hyperactivity disorder are complex disorders with heterogeneous etiologies. Schizophrenia and autism are difficult to treat and often cause major individual suffering largely owing to our limited understanding of the disease biology. Thus our understanding of the biological pathogenesis needs to be substantiated to enable development of more targeted treatment options with improved efficacy. Insights into the pre-morbid disease dynamics, the morbid condition and the underlying biological disease mechanisms may come from studies of subjects with homogenous etiologies. Breakthroughs in psychiatric genetics have shown that several genetic anomalies predispose for neurodevelopmental brain disorders. We have established a Danish research initiative to study the common microdeletion at chromosome 22q11.2, which is one of the genetic anomalies that confer high risk of schizophrenia, autism and attention deficit hyperactivity disorder.METHODS/DESIGN: The study applies a {"}cause-to-outcome{"} strategy to identify pre-morbid pathogenesis and underlying biological disease mechanisms of psychosis and secondarily the morbid condition of autism and attention deficit hyperactivity disorder. We use a population based epidemiological design to inform on disease prevalence, environmental risk factors and familial disposition for mental health disorders and a case control study design to map the functional effects across behavioral and neurophysiological traits of the 22q11 deletion in a recruited sample of Danish individuals.DISCUSSION: Identification of predictive pre-morbid clinical, cognitive, functional and structural brain alterations in 22q11 deletion carriers may alter current clinical practice from symptomatic therapy of manifest mental illness into early intervention strategies, which may also be applicable to at risk subjects without known etiology. Hopefully new insights into the biological disease mechanisms, which are mandatory for novel drug developments, can improve the outcome of the pharmacological interventions in psychiatry.",

keywords = "Attention Deficit Disorder with Hyperactivity, Autistic Disorder, Case-Control Studies, Child, Child Health Services, Chromosome Aberrations, Chromosomes, Human, Pair 22, Denmark, Humans, Mental Health Services, Research Design, Schizophrenia",

author = "Henriette Schmock and Anders Vangkilde and Larsen, {Kit Melissa} and Elvira Fischer and Birknow, {Michelle Rosgaard} and Jepsen, {Jens Richardt M{\o}llegaard} and Charlotte Olesen and Flemming Skovby and Plessen, {Kerstin Jessica} and Morten M{\o}rup and Ollie Hulme and Baar{\'e}, {William Frans Christiaan} and Michael Didriksen and Siebner, {Hartwig Roman} and Thomas Werge and Line Olsen",

year = "2015",

month = sep,

day = "17",

doi = "10.1186/s12888-015-0594-7",

language = "English",

volume = "15",

pages = "1--12",

journal = "B M C Psychiatry",

issn = "1471-244X",

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TY - JOUR

T1 - The Danish 22q11 research initiative

AU - Schmock, Henriette

AU - Vangkilde, Anders

AU - Larsen, Kit Melissa

AU - Fischer, Elvira

AU - Birknow, Michelle Rosgaard

AU - Jepsen, Jens Richardt Møllegaard

AU - Olesen, Charlotte

AU - Skovby, Flemming

AU - Plessen, Kerstin Jessica

AU - Mørup, Morten

AU - Hulme, Ollie

AU - Baaré, William Frans Christiaan

AU - Didriksen, Michael

AU - Siebner, Hartwig Roman

AU - Werge, Thomas

AU - Olsen, Line

PY - 2015/9/17

Y1 - 2015/9/17

N2 - BACKGROUND: Neurodevelopmental brain disorders such as schizophrenia, autism and attention deficit hyperactivity disorder are complex disorders with heterogeneous etiologies. Schizophrenia and autism are difficult to treat and often cause major individual suffering largely owing to our limited understanding of the disease biology. Thus our understanding of the biological pathogenesis needs to be substantiated to enable development of more targeted treatment options with improved efficacy. Insights into the pre-morbid disease dynamics, the morbid condition and the underlying biological disease mechanisms may come from studies of subjects with homogenous etiologies. Breakthroughs in psychiatric genetics have shown that several genetic anomalies predispose for neurodevelopmental brain disorders. We have established a Danish research initiative to study the common microdeletion at chromosome 22q11.2, which is one of the genetic anomalies that confer high risk of schizophrenia, autism and attention deficit hyperactivity disorder.METHODS/DESIGN: The study applies a "cause-to-outcome" strategy to identify pre-morbid pathogenesis and underlying biological disease mechanisms of psychosis and secondarily the morbid condition of autism and attention deficit hyperactivity disorder. We use a population based epidemiological design to inform on disease prevalence, environmental risk factors and familial disposition for mental health disorders and a case control study design to map the functional effects across behavioral and neurophysiological traits of the 22q11 deletion in a recruited sample of Danish individuals.DISCUSSION: Identification of predictive pre-morbid clinical, cognitive, functional and structural brain alterations in 22q11 deletion carriers may alter current clinical practice from symptomatic therapy of manifest mental illness into early intervention strategies, which may also be applicable to at risk subjects without known etiology. Hopefully new insights into the biological disease mechanisms, which are mandatory for novel drug developments, can improve the outcome of the pharmacological interventions in psychiatry.

AB - BACKGROUND: Neurodevelopmental brain disorders such as schizophrenia, autism and attention deficit hyperactivity disorder are complex disorders with heterogeneous etiologies. Schizophrenia and autism are difficult to treat and often cause major individual suffering largely owing to our limited understanding of the disease biology. Thus our understanding of the biological pathogenesis needs to be substantiated to enable development of more targeted treatment options with improved efficacy. Insights into the pre-morbid disease dynamics, the morbid condition and the underlying biological disease mechanisms may come from studies of subjects with homogenous etiologies. Breakthroughs in psychiatric genetics have shown that several genetic anomalies predispose for neurodevelopmental brain disorders. We have established a Danish research initiative to study the common microdeletion at chromosome 22q11.2, which is one of the genetic anomalies that confer high risk of schizophrenia, autism and attention deficit hyperactivity disorder.METHODS/DESIGN: The study applies a "cause-to-outcome" strategy to identify pre-morbid pathogenesis and underlying biological disease mechanisms of psychosis and secondarily the morbid condition of autism and attention deficit hyperactivity disorder. We use a population based epidemiological design to inform on disease prevalence, environmental risk factors and familial disposition for mental health disorders and a case control study design to map the functional effects across behavioral and neurophysiological traits of the 22q11 deletion in a recruited sample of Danish individuals.DISCUSSION: Identification of predictive pre-morbid clinical, cognitive, functional and structural brain alterations in 22q11 deletion carriers may alter current clinical practice from symptomatic therapy of manifest mental illness into early intervention strategies, which may also be applicable to at risk subjects without known etiology. Hopefully new insights into the biological disease mechanisms, which are mandatory for novel drug developments, can improve the outcome of the pharmacological interventions in psychiatry.

KW - Attention Deficit Disorder with Hyperactivity

KW - Autistic Disorder

KW - Case-Control Studies

KW - Child

KW - Child Health Services

KW - Chromosome Aberrations

KW - Chromosomes, Human, Pair 22

KW - Denmark

KW - Humans

KW - Mental Health Services

KW - Research Design

KW - Schizophrenia

U2 - 10.1186/s12888-015-0594-7

DO - 10.1186/s12888-015-0594-7

M3 - Journal article

C2 - 26384214

SN - 1471-244X

VL - 15

SP - 1

EP - 12

JO - B M C Psychiatry

JF - B M C Psychiatry

M1 - 220

ER -

The Danish 22q11 research initiative

Abstract

Keywords

UN SDGs

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