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Stanley F. Nelson MD, Wayne W. Grody MD Phd, Hane Lee, Phd, Joshua Deignan Phd, Sung-Hae Kang Phd, Valerie Arboleda MD, Phd, Naghmeh Dorrani MS, LCGC, Marina S

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Stanley F. Nelson MD, Wayne W. Grody MD Phd, Hane Lee, Phd, Joshua Deignan Phd, Sung-Hae Kang Phd, Valerie Arboleda MD, Phd, Naghmeh Dorrani MS, LCGC, Marina S Supplement UCLA Clinical Genomics Center members: Stanley F. Nelson MD, Wayne W. Grody MD PhD, Hane Lee, PhD, Joshua Deignan PhD, Sung-Hae Kang PhD, Valerie Arboleda MD, PhD, Naghmeh Dorrani MS, LCGC, Marina S. Dutra-Clark MS, LCGC, Jessica Kianmahd, Emilie Douine MS, LCGC, Celeste Eno PhD, T. Niroshi Senaratn PhD 1 Table S1: Copy Number Variants Identified in Patients with NDDs on the Inpatient Child Psychiatry Service Patient Chromosomal CNV Type Pathogenicity Testing Genome Size Start End RefSeq Genes Region Approach Build (kb) Position Position Genetic Testing on Inpatient Service 1 12p12.1 Deletion LP Proband hg19 83 24,460,211 24,543,437 SOX5 only 1 15q26.2 Duplicationa VUS Proband hg19 434 97,912,591 98,363,529 LOC101927284, LOC101927310, LINC00923, ARRDC4, 15q26.2q26.3 only 10 98,371,514 98,739,411 LINC01582, 15q26.3 1300 100,075,459 100,640,355 MEF2A , LYSMD4, LOC400464, ADAMTS17 [MIM: 6 15q11.2 Duplication, VUS Proband hg19 514 22,770,421 23,284,005 TUBGCP5, CYFIP1, NIPA2, NIPA1, LOC283683, WHAMMP3, BP1-2 only HERC2P2 6 11q24.3q25 Duplication VUS Proband hg19 1034 130,563,850 131,598,715 C11orf44 LINC02551, LOC103611081, SNX19, NTM, only LOC101929653, NTM-AS1 9 5q14.3 Deletion VUS Proband hg19 94 89,795,338 89,889,132 POLR3G, LYSMD3, ADGRV1 only 16 8p23.1p22 Deletion VUS Proband hg19 6.2 12,665,285 18,858,808 LOC34035 , LINC00681, KIAA1456, DLC1, C8orf48, only LOC102725080, SGCZ, MIR383, TUSC3, MSR1, FGF20, MICU3, ZDHHC2, CNOT7, VPS37A, MTMR7, SLC7A2, PDGFRL, MTUS1, MIR548V, FGL1, PCM1, ASAH1, LOC101929066, NAT1, NAT2, PSD3 20 5q35.1 Duplication VUS Proband hg19 731.8 170,168,173 170,899,982 GABRP, RANBP17, TLX3, MIR3912, NPM1, FGF18 only 23 5q33.3 Duplication VUS Proband hg19 741 157,668,710 158,409,313 EBF1, LOC101927697 only Genetic Testing in Other Clinical Settings 24 15q11.2 Duplication, VUS Proband hg19 520 22,770,421 23,290,863 TUBGCP5, CYFIP1, NIPA2, NIPA1, LOC283683, WHAMMP3, BP1-2 only GOLGA8IP, HERC2P2 35 2q21b Deletion VUS Proband Unknown 79 Unknown Unknown Unknown only 35 2q21.1b Duplication VUS Proband Unknown 513 Unknown Unknown Unknown only 2 35 8p22b Triplication VUS Proband Unknown 1000 Unknown Unknown Unknown only a = Likely complex rearrangement; b = per geneticist note, CMA report not available in chart; BP = breakpoint; CNV = copy number variant; hg = human genome; kb = kilobases; LP = likely pathogenic; VUS = variant of unknown significance 3 Table S2: Single Nucleotide Variants Identified in Patients with NDDs on the Inpatient Child Psychiatry Service Gene Testing Inheritance Pathogenicity Zygosity Mechanism Genome Genomic Change Coding Change Protein Patient Approach Build Change Genetic Testing on Inpatient Service 14 SHANK2 Proband and Not VUS Heterozygous Missense hg19 chr11:g.70666515C>T NM_012309.4: p.Ala434Thr mother maternal c.1300G>A 19 SLC6A17 Trio Paternal VUS Heterozygous Loss of hg19 chr1:g.110719250G>A NM_001010898.3: Splice variant Function c.754-1G>A Genetic Testing in Other Clinical Settings 34 AFF3 Trio De Novo VUS Heterozygous Missense hg19 chr2:g.100360596G>C NM_002285.2: p.Gln337Glu c.1009C>G chr = chromosome; hg = human genome; VUS = variant of unknown significance 4 Table S3: Patient Medications Before and After Hospitalization Patient Psychiatric Medications Prior to Other Medications Prior Psychiatric Medications Upon Other Medications Upon Admission to Hospital to Admission to Discharge from Hospital Discharge from Hospital Hospital 1 Quetiapine 200mg BID - Chlorpromazine 25mg BID - Diphenhydramine 100mg bedtime Fluoxetine 40mg qAM Guanfacine 2mg BID Lisdexamfetamine 40mg qAM 2 Olanzapine 5mg BID - Olanzapine disintegrating table 5mg - TID 3 Aripiprazole 2.5mg BID - Aripiprazole 5mg qAM, 5mg qHS - Guanfacine 1mg qHS Guanfacine ER 2mg BID Sertraline 100mg daily Trazodone 25mg qHS PRN insomnia 4 Clomipramine 50mg BID - Clomipramine 75 mg BID - Chlorpromazine 25mg BID Chlorpromazine 25mg BID Clonidine 0.1mg qHS Clonidine 0.05mg qAM, 0.1mg qHS Clonazepam 0.5mg q4H PRN for Clonazepam 0.5mg TID agitation 5 Olanzapine 10 mg qHS - Fluoxetine 20mg qAM - Lithium 600 mg qHS Diphenhydramine 25mg qHS PRN for Guanfacine 3mg QAM insomnia/agitation 6 Lithium Carbonate 450mg TID Vitamin C Lisdexamfetamine 60mg daily Vitamin C Quetiapine 200mg 3pm, 600mg 8pm Vitamin D Lithium carbonate 900mg BID Vitamin D Aripiprazole 5mg BID Calcium Risperidone 2mg qAM, 4mg qHS Calcium Lisdexamfetamine 30 mg qAM Fish oil Venlafaxine 150mg daily qAM Fish oil Alprazolam 1mg PRN Milk thistle Milk thistle 7 Clonazepam unknown dose Cholecalciferol 5,000U Clonazepam 0.25mg qHS Cholecalciferol 5,000U Guanfacine unknown dose daily Guanfacine 1mg TID daily Risperidone 1.5mg BID Sertraline 200mg QAM 8 Risperidone 1.5mg BID - Escitalopram 10mg qAM Diphenhydramine cream Aripiprazole 20mg qAM Quetiapine 300mg BID Aripiprazole 5mg BID (tapering) Diphenhydramine 25mg q6 hours PRN for agitation 9 Haloperidol 5mg qHS - Clozapine 75mg QAM, 125mg qHS Glycopyrrolate 2mg qHS Haldol Dec 50mg qMonth Divalproex sodium 250mg QID Senna 8.6mg daily Benztropine 1mg BID Trazadone 100mg qHS Docusate 100mg BID Diphenhydramine 50mg q3pm Clonazepam 0.5mg BID Divalproex sodium 100mg qHS Clonazepam 0.5mg BID 10 Lurasidone 80 mg qHS - Lurasidone 80mg qAM - Lithium 300 mg qAM/450 mg qHS. Lithium 300mg qAM, 450mg qHS Sertraline 100 mg qAM Sertraline 150mg daily Topiramate 25 mg BID 11 Aripiprazole 5mg qAM Diltiazem 15mg qHS Aripiprazole 5mg daily, Diltiazem 15mg qHS Amphetamine/dextroamphetamine for TD Amphetamine/dextroamphetamine mixed salts 10mg qAM mixed salts XR 20mg QAM Paroxetine 20mg qAM Clonidine 0.2mg TID Hydroxyzine 50mg QID PRN agitatoin Chlorpromazine 25mg BID Clonidine 0.2mg BID Paroxetine 50mg qAM Clonazepam 1mg TID Clonazepam 0.25mg qHS 12 Haloperidol 6mg qAM, 5.5mg q12pm, Bethanechol 25mg TID Gabapentin 600mg TID Acetaminophen 325mg 5.75mg qHS Dioctyl sodium Clonidine 0.1mg/24hr patch q7 days q6h PRN mild pain Oxcarbazepine 600mg qAM, 600mg sulfosuccinate PRN Escitalopram 20mg qday Polyethylene glycol 8.7g afternoon, 900mg qHS constipation Chlorpromazine 50mg QID TID PRN constipation Divalproex sodium 625mg TID Senna glycoside PRN Oxcarbazepine 600mg TID Benefiber TID with meals Gabapentin 1000mg TID constipation Hydroxyzine 25mg q4h PRN anxiety Dioctyl sodium Escitalopram 10mg qAM Polyethylene glycol Lorazepam 1mg q2h PRN agitation sulfosuccinate 100mg Clonidine patch 0.2mg/24h q7 days PRN constipation BID Benztropine 0.5mg BID Pantoprazole 20mg BID 13 Divalproex sodium 500mg qHS Hydrocortisone 1% Clozapine 500mg qHS - Olanzapine 10 mg qAM and 15mg topical Risperidone 4mg qAM qHS Petroleum jelly topical Lithium 600mg BID Aripiprazole Extended-Release Injectable 400mg monthly 14 Trazodone 150mg qHS - Lamotrigine 25mg qHS - Clonazepam 1mg TID Fluoxetine 60mg qAM Lorazepam 2mg TID PRN anxiety or Olanzapine 5mg BID agitation Trazodone 150mg qHS 15 Clonidine 0.15 mg BID - Clonidine 0.15 mg BID - 5 Olanzapine 10mg qAM 16 - - Fluoxetine 20mg TID - Olanzapine 5mg qHS 17 Divalproex sodium 1500mg daily Cholecalciferol 1000U Clozapine 250mg BID Quetiapine 100mg qAM, 600mg qHS daily Levothyroxine 25mg daily 18 Lurasidone, dose unknown Norethindrone-ethinyl Fluoxetine 40 mg qAM Norethindrone-ethinyl Chlorpromazine, dose unkonwn estradiol 1.5-30 mg- Lurasidone 40mg qAM estradiol 1.5-30 mg-mcg mcg tablet daily Chlorpromazine 25mg TID PRN tablet daily agitation 19 Lamotrigine 50mg BID Rufinamide 800mg BID Lamotrigine 50mg BID Rufinamide 800mg BID Pregabalin 300 mg qHS Risperidone 2mg BID Pregabalin 300 mg qHS Cyproheptadine 4mg Cyproheptadine 4mg qHS qHS PEG 17g qAM PEG 17g qAM 20 Benztropine 0.5mg BID PEG 17g qAM Olanzapine disintegrating tablet 10mg Metformin 500mg qHS Clonidine 0.15mg AM, 0.25mg qHS Loratadine 10mg qAM qAM 15mg qHS Psyllium 28% packet Divalproex sodium 500mg BID Acetaminophen 325mg Olanzapine disintegrating tablet 5mg daily Melatonin 10mg qHS q6h PRN pain q6H PRN agitation Sennosides 8.8mg daily Chlorpromazine 25mg PRN agitation Trazodone 150mg qHS Risperidone 1.5mg BID Melatonin 10mg qHS Hydroxyzine 50mg q6h PRN anxiety 21 Risperidone disintegrating tablet 1mg - Risperidone disintegrating tablet 2mg - BID BID Methylphenidate 10mg BID Escitalopram 5mg daily Guanfacine 0.5mg BID Chlorpromazine 25mg PRN, NTE 100mg/daily 22 Olanzapine 5mg qHS - Olanzapine disintegrating tablet 15mg - Lithium carbonate 900mg qHS qHS Fluoxetine 10mg qHS 23 Abilify 20mg qAM - Geodon 60mg BID - Guanfacine 1mg BID Guanafacine 2mg TID Propanolol 10mg BID Hydroxyzine 25mg TID Thorazine 25mg PRN agitation Zoloft 150mg PO qAM ADHD = Attention Deficit Hyperactivity Disorder; ASD = Autism Spectrum Disorder; BID = Twice a day; g = grams; HS = Bedtime; mg = Milligrams; q = Every; NTE = not to exceed; PRN = as needed; QID = four times a day; TID = Three times a day; U = Units 6 Table S4: Patient Family History Patient Neuropsychiatric Family History 1 - 2 Half-brother (x2): ADHD Brother: ASD 3 Mother: Generalized anxiety disorder 4 Mother: Anxiety Father’s maternal great aunt: Learning disabilities and low IQ 5 Mother: Anxiety and OCD Father: Anxiety and panic attacks Brother: severe OCD and anxiety Maternal grandmother: alcoholism, suspected bipolar disorder Maternal aunts: Anxiety and OCD. Paternal half-uncle: paranoid schizophrenia 6 Maternal grandfather: bipolar disorder Maternal half-uncle: “mental issues” Other paternal relatives: ASD and learning disabilities 7 Paternal Aunt: Depression Half-brother: Tics and ADHD Paternal Relatives: Stuttering 8 Uncle: Bipolar disorder 9 Mother: Substance use disorder Father: Substance use disorder
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