Psychiatric Manifestations of Organic Conditions! Focus on NPC!

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1 Psychiatric Manifestations of Organic Conditions! Focus on NPC! Olivier Bonnot, MD, PhD! Department of Child and Adolescent Psychiatry! University of Nantes, France! website: COPENHAGEN April, 16 th, 2015

2 Outline! Overview of organic disorders in psychiatry! Focus on treatable IEM and NPC! How to build an accurate and efficient algorithm for differential diagnosis?! Conclusions!

3 General Consideration! Organic disorders are poorly recognised in psychiatric patients! Prevalence is unknown except in few! sub-samples! Cross-discipline diseases are obviously more difficult to diagnose!

4 Main Organic Disorders in Schizophrenia! Nutritional deficiency! Pellagra! (Vitamin B3 deficiency)! Biermer! (Vitamin B12 deficiency) Bushman 1999! Endocrine diseases! Other vitamin deficiency?! Addison s Disease! Cushing's Disease Hirsh 2000! Inborn errors of metabolism! Dysregulation of thyroid and! hyper-parathyroid! Homocysteine metabolism disorders (MTHFR and CBs) Reif 2005! Wilson s Disease Wichovicz 2006! Urea cycle disorders! Porphyria Ellencweig 2006! Infectious diseases! Niemann-Pick disease Type C! Xanthomatosis! Cerebral abscess! Encephalitis (HSV ++)! Neuro-syphilis! Auto-immune diseases! Chorea / Multiple Sclerosis! Lupus / Sarcoidosis! NMDA! Chromosomal abnormalities! Mac Carthy, Nat Genet 2009; Ingason, Mol Psy, 2011; Abdolmaleky, Am J Med Genet 2005, Stefansson, Nature 2009; Levinson, Am J Psy 2011!! 1q21, 2p53, 2q29, 15q11.2, 15q11.3, 17q12, 22q11.2! NRXN1 (Neurexin 1)! 7q36.3, 25q11-13, 16p11.2, 16p13.1! Other CNS diseases! Toxic! Medication! Epilepsy!!!

5 Main Genetic Disorders in ASD Pathology! % in ASD! % with ASD! Genes! Fragile X! 2 5%! 20 40%! FMR1! Tuberous Sclerosis! 3 4%! 43 86%! TSC1-TSC2! Duplication 15q! Angelman / Prader Willi! 22q11 deletion! 16p11 deletion! 1 2%! sup 40%! 1 %! High but unknown! UBE3A! GABAr! SHANK3! PCKB1! 2q37 deletion!?! 50! K1F1A, GBX2! Joubert Syndrome!?! 40%! AH1! Timothy Syndrome!?! 60 70%! CACNA1C! Focal Cortical Epilepsy with dysplasia!?! 70%! CNTNAP2! ASD, autistic spectrum disorder!

6 Main IEM in ASD Diseases! ASD + associated signs! Diagnosis! Treatment! Phenylketonuria! Neonatal onset, seizure, microcephaly, musty and mousy odour! Phenylpyruvic acid in urine! Plasma amino acids analysis! Restricted diet! Amino acids! Adenylosuccinase deficiency! Profound retardation! first year! epilepsy, hypotonia! Succinyl aminoimidazole, carboxamine riboside and succinyl adenosine in urine and CNS! D-Ribose! Creatine deficiency! Mental retardation, hypotonia, epilepsy, dyskinetic movements, regression +++! Blood and urinary creatinine, MRI, Spectroscopy! Oral creatine! Arginine restriction! Ornithine substitution! Smith-Lemli-Opitz! Onset in infancy, mental retardation, sensory hyperactivity, sleep disturbance, hypotonia,! Abnormal sterol pattern (low plasma and tissue cholesterol and increased plasma and tissue! 7-dehydrocholesterol reductase)! Cholesterol replacement therapy! Serotonin deficiency! Various! CNS serotonin level! Serotonin + L-Dopa?! Cerebal folate deficiency! Ataxia, abnormal movement! Controversial! CNS folate! Folic acid! ASD, autistic spectrum disorder; CNS, central nervous system; IEM, inborn error in metabolism; MRI, magnetic resonance

7 Tableau I Principales causes de retard mental : classification, étiopathogénie, et fréquence estimée (d après Szymanski et Bryan, 1999)! Classification! Exemples! Etiopathogénie! Causes prénatales d origine génétique a 32 %! 95 % : trisomie 21 (non transmise) ; 5 % : translocation (peut être Aberrations chromosomiques! Syndrome de Down ou Mongolisme! transmise)! X Fragile! Lié à l X ; répétition CGG > 230! Mutations monogéniques! Phénylcétonurie! Autosomique récessif ; déficit enzymatique! Sclérose tubéreuse! Autosomique dominant! Multifactoriel! Retard mental «familial»! Mixte: génétique, environnementale! Syndrome Vélo-Cardio-Facial! Délétion sur le chromosome 22 (q11)! Syndrome de Prader-Willi! Délétion sur le chromosome 15 (q11-q13) d origine paternelle! Microdélétion! Syndrome d Angelman! Délétion sur le chromosome 15 (q11-q13) d origine maternelle! Syndrome de Williams-Beuren! Microdelétion du chromosome 7 (q11.23)! 82 treatable causes! Metaboliques! 82 causes de pathologies neurométaboliques! enzymatiques! Causes prénatales d origine externe 12 %! Infections maternelles! of Infection VIH! IEM! Encéphalopathie virale! Causes toxiques! Syndrome d alcoolisme fœtal! Exposition in utero à l alcool! Causes obstétricales! in Intellectual Prématurité! Deficiency! Variable, multifactorielle! Malformations d origine inconnue 8 %! Malformations du SNC! Non fermeture du tube neural! Parfois associé à une hydrocéphalie! Syndrome poly-malformatifs! Syndrome de Cornelia de Lange! Inconnue! Causes périnatales 11 %! Infections! Encéphalite! Infection au virus Herpes Simplex 2! Problèmes pendant la délivrance! Anoxie néonatale! Variable, infarctus cérébral! Autres! Hyperbilirubinémie! Incompatibilité rhésus mère enfant! Causes post natales 8 %! Infections! Encéphalite! Infection virale ou bactérienne! Causes toxiques! Saturnisme! Intoxication au plomb! Psychosocial! Pathologie de déprivation! Malnutrition, abus, négligence, dépression anaclitique! Autres! Traumatismes ou tumeurs cérébrales! Variable, atteinte du SNC! Causes inconnues 25 %!

8 Thousands! All inherited! 40 / (Applegarth, Toole 2000, British Columbia) UNDERESTIMATED! Frequently associated with Psychiatric signs! Psychiatric presentations are underestimated particularly when case are sever and with early onset!

9 CLINICAL CASE

10 Brother an Sister, Hanon et al, 2013 Cases 22 years old boy Brief and acute Psycho=c symptoms cannabis 14 hospitaliza=ons in 4 years (same symptoms, same context) Diagnose is Schizophrenia AP are poorly efficient

11 Age 26 Speech and swallow impairments Abnormal movements Blankly stare Cogni=ve decline No change with AP stop or down =tra=on

12 Age 26 Choreo- dystonic movements Cerebellum syndrome Dysmetria / Dysarthria Frontal Syndrome SNGP Niemann Pick Type C Improvement of Psycho=c symptoms with no other treatment than Miglustat

13 Niemann Pick type C

14 Place of Psychiatric Signs in! Niemann-Pick disease Type C! Sévin M, et al. Brain 2007:130;120 33

15 Psychiatric Signs 9 case reports (1) + 5 case series (2) : 30 patients with psychiatric signs 24 ataxia: 80% 24 VSNGP: 80% 18 cognitive impairments: 60% 15 large liver or spleen : 50% (1) (1) Hulette et al 1992; Shulman et al 1995; Campo et al 1998; Battisti et al 2003; Turpin et al 2003; Tyvaert et al 2005; Trendelenburg et al 2006; Sandu et al 2009; Walterfang et al 2006 (2) (2) Imrie et al. 2002; Josephs et al 2003; Walterfang et al 2006; Sevin et al 2007; Walterfang et al 2009;

16 NP-C and Neuropsychological Signs! Intellectual deficiency is not systematic, but when it occurs, it s moderate! Cognitive impairments are common but unspecific: lack of working memory, impairment in logic thought 1! Developmental delay 2! All are very heterogeneous! 1. Klarner B, et al. J Inherit Met Dis 2007;30:60 7;! 2. van de Vlasakker CJ, et al. Clin Neurol Neurosurg 1994;96:

17 NP-C and Psychiatric Signs! Schizophrenia may occur! Cognitive impairment!

18 Main IEM in Schizophrenia! Disorder! Clinical signs! Context! Eye exam! Biological markers! Wilson! Urea cycle! Homocysteinemia (CbS)! Homocysteinemia (MTHFR)! Niemann-Pick! disease Type C! Cerebrotendinous xanthomatosis! Porphyria! Tremor! Dystonia! Dysarthria! Confusion! Abdominal pain! Nausea vomiting! Thromboembolism! Scoliosis! Marfan-like! Cerebellar signs! Early-onset severe disease usually with microcephaly/ apnea / convulsion! Dystonia + ataxia Dysarthria! Splenomegaly! Chronic diarrhoea! Spastic paralysis! Urine black or red! Constipation! Confusion! Abdominal pain! Nausea / vomiting! Protein diet! Post-surgery! Drugs! (valproate / corticoids)! Protein diet! Post-surgery! Neonatal icterus! Slow progression! Periodic! Kayser-Fleischer ring! Severe myopia! Ectopic lens! Supranuclear vertical! Gaze palsy! Juvenile cataract! Coeruloplasmin! Ammoniaemia! Homocysteiniemia! Methioninemia! Homocysteiniemia! Methioninemia! Skin-biopsy! Filipin test! NPC1 and NPC2 gene test! Cholesteanoemia! Porphobilinogens (URINE)!

19 Atypical Psychiatric Features! How to

20 Atypical Psychiatric Signs of Schizophrenia! No! 0! Slightly! 1! Evident! 2! Main clinical feature! 3! Visual hallucinations more important than auditory! 0 Confusion! 0 Catatonia! 0 Progressive cognitive decline! 0 Treatment resistance! 3 Fluctuating schizophrenia core symptoms! 1 Acute onset! 2 Early onset! 0 Intellectual disabilities! 1 Unusual side effects! (level and type)! 1

21 Atypical Psychiatric Features! Suggest the need for a more extensive search! Are probably not accurate for acute (infections, toxic)! Could be a starting point for a large algorithm!

22 Differential Diagnosis Algorithm! A large list of diseases! 61 disorders!!

23 Differential Diagnosis Algorithm! An even larger list of signs and symptoms (293)! Try to make it simple for clinical use! Not an easy task!!! Physical phenotype! Symptom categories! Bone/connective tissue! Cardiovascular! Dermatological! Endocrine! Genitourinary! Haematological! Hearing! Miscellaneous! Neuroimaging! Neurological! Renal! Speech! Visceral! Visual!

24 Differential Diagnosis Algorithm! Physical phenotype! Symptom categories! Bone/connective tissue! Cardiovascular! Dermatological! Endocrine! Genitourinary! Haematological! Hearing! Miscellaneous! Neuroimaging! Neurological! Renal! Speech! Visceral! Visual!

25 Differential Diagnosis Algorithm! Diagnos=c loop 1 Suspicion of psychosis [entry criteria to be defined] Assess/Treat/Refer Yes Obvious cause? No Abnormal MRI Symptom checker Tier 1 No, but more poten4al diagnoses (i.e. move down the ranked list) Diagnos=c loop 2 Assess/addi=onal examina=ons Diagnosis confirmed? Yes Treat/Refer Yes No more poten4al diagnoses Possible to provide short list of high likelihood diagnoses? No Symptom checker Tier 2 No, but more poten4al diagnoses (i.e. move down the ranked list) Diagnos=c loop 3 Assess/addi=onal examina=ons Diagnosis confirmed? Yes Treat/Refer No more poten4al diagnoses Ranked list of poten=al diagnoses No diagnosis possible

26 Differential Diagnosis Algorithm! Still a work in progress! Simple and accurate! IEM and other genetic diseases! Atypical psychosis signs are a good entry point! Few discriminative neurological (and / or other) symptoms must be identified!

27 Conclusion and Take Home Messages! Schizophrenia is present in 1% of the general population! An underestimated proportion may be associated with organic disorders! Not only inborn errors of metabolism! Atypical signs of psychosis are a clear indication! to perform an extensive search of organic causes! Think about NPC!

28 Tak for er opmærksomhed!

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