ADOLESCENTS INTRODUCTION What Child Mental Health Professionals Should Know About Genetics Adapted by Julie Chilton Chapter A13 Companion Powerpoint Presentation The IACAPAP Textbook of Child and Adolescent Mental Health is ID: 914408
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Robert R. AlthoffDEPRESSION IN CHILDREN ANDADOLESCENTS
INTRODUCTION
What Child Mental Health Professionals Should Know About Genetics
Adapted by Julie Chilton
Chapter A.13
Companion
Powerpoint Presentation
Slide2The “IACAPAP Textbook of Child and Adolescent Mental Health” is available at the IACAPAP website http://iacapap.org/iacapap-textbook-of-child-and-adolescent-mental-healthPlease note that this
book and its companion powerpoint are:
· Free and no registration is required to read or download it· This is an open-access publication under the Creative Commons Attribution Non- commercial License. According to this, use, distribution and reproduction in any medium
are allowed without prior permission provided the original work is properly cited and the use is non-commercial.
Slide3The BasicsGenetics of Child Psychiatric DisordersGenetic StudiesChild and Adolescent Psychiatric Disorders Known to be InheritedGenetic TestingGenetic Counseling
Genetics
Outline
Slide4Genetics
Genetics of Child Psychiatric Disorders
Prime examples of complex traits
Not
Mendelian inheritanceAssociated with multiple genes
Associated with multiple environmentsJean Baptiste Lamarck(1774-1829)
Slide5Genetics
Basic Concepts of Genetics
http://www.ted.com/talks/james_watson_on_how_he_discovered_dna
Slide6Genetics
Basic Concepts of Genetics
DNA transcribed into mRNA
mRNA translated by
tRNA
into proteinProteins do work of cellhttp://www.genome.gov/Glossary/
Slide7Genetics
Basic Concepts of Genetics
Slide8Genetics
Basic Concepts of Genetics
Slide9Genetics
Genetics of Child Psychiatric Disorders
Common disease-common variant hypothesis
Rare variant-common disease hypothesis
Gene-environment interaction hypothesis
https://www.coursera.org/course/behavioralgenetics?authMode=login
Slide10Genetics
Different Types of Genetic Studies
Family studies
Twin and adoption studiesCandidate gene studiesLinkage studies
Genome-wide
association studiesGenome –wide
complex trait analysisEpigeneticsGene x environment interplay
Slide11Genetics
Heritability of Child and Adolescent Psychiatric Conditions
Slide12Genetics
Known Genetic Conditions of Importance
Down syndrome
Fragile X syndromeWilliams syndromePrader-Willi syndromeAngelman syndromeRett syndrome
22q11.2 deletion syndrome
Turner syndromeSmith-Magenis syndromeDeletion or duplication of
16p11SEE CHAPTER C.1http://ghr.nlm.nih.gov/
Slide13Genetics
Down Syndrome
Trisomy 21
Advance parental age
1/1000 live birthsDe novo changePartial trisomy possible
Facial featuresCardiac/GI problemsLanguage delayIntellectual Disability10% autismIncreased risk forADHDAnxietyDepressionSeizures
Dementia
Diagnosis: karyotype
Slide14Genetics
Fragile X Syndrome
Inherited
1/4000 males
1/8000 femalesIncreased trinucleotide repeats
FMR1 gene on X chromosomeRepeats accumulate>200=clinical syndromeF<M because x-linkedMacrocephaly, big ears, long narrow face, macro-orchidismDevelopmental delayIntellectual disabilityAttention, communication, social pragmatic problems1/3 autism
Diagnosis: FISH
Slide15Genetics
Williams Syndrome
1/1000 births
Deletion chromosome 7
Broad forehead, wide mouth, full lips, full cheeks, narrow templesSkin, joint, heart problems possible
Intellectual disabilityVisual-spatial difficultiesSuperficial hypersocial personalityMiss social cuesADHDAnxietySleep problemsDiagnosis: FISH or microarray
Slide16Genetics
Prader-Willi
Syndrome
Multiple etiology
C
hromosome 15q11-q13 deletion/inactivation1/15000 birthsInfancy: poor feeding, slow growth, developmental delay, hypotoniaChildhood: hyperphagia, obesity, diabetesNarrow forehead, triangular mouth, almond eyesSmall, narrow hands and feet
Delayed puberty
Underdeveloped genitalia
Intellectual disability
Compulsive behavior
Diagnosis:
methylation PCR
Slide17Genetics
Angelman
Syndrome
Loss of maternal copy UBE3A gene chromosome 15
1/15,000
Seizures in first 2 yearsHypopigmentationCoarse facial featuresDelayed developmentIntellectual disabilityHappy appearanceFrequent laughingHand flappingSocial disinhibitionPoor sleep
Diagnosis: Methylation PCR /UBE3A analysis
Slide18Genetics
Rett
Syndrome
MECP2 mutation
Boys die in utero or infancy
Mostly girls1/8500 femalesMostly normal development in first 6-18 monthsThen profound developmental delay, autistic traits, hand movementsEventual motor function lossSeizures commonLittle to no languageSleep problemsIrritability~Autism
Diagnosis: MECP2 gene sequencing
Slide19Genetics
22q11 Deletion Syndrome
Deletion of 22q11 gene
TBX1 gene
COMT gene
1/4000Variable medicalCleft lip and palateVentricular septal defectThymus glandLow Ca++
Conotruncal
anomaly face syndrome
Variable clinical
Intellectual
disability
Attention
Anxiety
Social
withdrawal
Autism
Psychosis
Diagnosis: FISH testing for 22q11
deletion
Slide20Genetics
Others
Turner syndrome
Single X
No paired X or YShort statureIntellectual disability
Deletion/Duplication 16 p11Autism, epilepsy, schizophrenia, intellectual disabilitySmith-Magenis SyndromeLoss of RAI gene on chromosome 17
Sleep problems
Short stature
Temper tantrums
Self-hugging
Finger-licking
Self-injury
Slide21Genetics
When is Genetic Testing Appropriate?
No current role for common child psychiatric conditions
Indicated only when 2 of
the following exist:Multiple congenital system involvement
Intellectual disabilityUnusual or abnormal faceMultiple affected individuals in a familyAutism diagnosis warrants chromosomal microarray
Slide22Genetics
Genetic Counseling in Mental Health Services
Basic education by mental health or primary care clinician
Coordinate tests and counseling with primary care clinician
Begin with accurate diagnosisObtain family history
Evaluate emotional and intellectual capacity of family membersEvaluate burdens and benefits of testingForm tiered planDiscuss recurrence risksFacilitate non-directive decision-making***More research needed in this area***
Slide23Genetics T
hank You!