1. Mental health, behavior challenges and strategies for management
Raffael Massuda MD, PhD

2. MENTAL HEALTH
Emotional
Psychological
Social

3. MENTAL HEALTH Emotional Feel Act Think Handle Stress Relate to others
Make Choices
Psychological
Social

4. MENTAL HEALTH Emotional Feel Act Think Handle Stress Relate to others
Make Choices
Psychological
Social
Every stage of life

5. What Contributes to Mental Health?
Biological Factors
Mental Health
Life Experiences
Family History

6. Mental Health in Homocystinuria?
Only 2.8% starts with psychiatry symptoms
Most Common Psychiatry Diagnoses:
Depression
Psychosis - Schizophrenia
Intelectual Disability
Abbott, 1987
Demily, 2014

7. DEPRESSION Common condition in general population: 10% Abbott, 1987
Demily, 2014
woman in the black field - Glenn Brady

8. DEPRESSION
Common condition in general population: 10% Same prevalence in homocystinuria
Abbott, 1987
Demily, 2014
woman in the black field - Glenn Brady

9. DEPRESSION Common condition in general population: 10%
Same prevalence in homocystinuria
Main symptoms:
Depressed mood
Loss of interest or pleasure
Change from previous functioning
Weight change, insomnia, fatigue, worthlessness, memory, suicide thinking
Abbott, 1987
Demily, 2014
woman in the black field - Glenn Brady

10. PSYCHOSIS Psychosis is a loss of contact with reality
There are four symptoms associated with psychotic episode:
Hallucinations
Delusions
Confused and disturbed thoughts
Lack of insight and self-awareness
Yayoi Kusama

11. PSYCHOSIS
Hallucinations: are where someone sees, hears, smells, tastes or feels things that don't exist outside their mind
Delusions: beliefs that are firmly maintained despite being contradicted by what is generally accepted as reality or rational argument
Yayoi Kusama

12. Schizophrenia PSYCHOSIS
Hallucinations: are where someone sees, hears, smells, tastes or feels things that don't exist outside their mind
Delusions: beliefs that are firmly maintained despite being contradicted by what is generally accepted as reality or rational argument
Schizophrenia
Yayoi Kusama

13. SCHIZOPHRENIA Psychotic Disorder 1% of the population Chronic Disorder
Positive
Symptoms
“psychosis”
Psychotic Disorder
1% of the population
Chronic Disorder
Starts at:
Men: years old
Women: years old
Negative
Symptoms
“blunt affect”
Cognitive
Impairment
Thought
Disorganization

17. PSYCHOSIS
Psychosis in homocystinuria: could be late psychiatry symptom
Prevalence: rare?
Psychosis: related to vascular diseases and demyelination
Increasing interest: Homocystine
Hypothesis of Schizophrenia
Colafrancesco, 2014 Eur Jour Pediatr
Ryan 2002 J Child Neurol
Yayoi Kusama

18. HOMOCYSTEINE LEVELS Adolescents with Schizophrenia
Siblings of Patients with Schizophrenia
Nevo, 2007 European Neuropsychoph
Geller, 2013 Psychiatry Research
Muntjewerff 2005 Molecular Psychiatry

19. HOMOCYSTEINE LEVELS 5 μ mols 70% risk Adolescents with Schizophrenia
Siblings of Patients with Schizophrenia
Nevo, 2007 European Neuropsychoph
Geller, 2013 Psychiatry Research
Muntjewerff 2005 Molecular Psychiatry
5 μ mols
70% risk

20. HOMOCYSTEINE LEVELS
Petronijević 2008 Progress in Neuro-Psy Biological Psych

21. HOMOCYSTEINE LEVELS
Petronijević 2008 Progress in Neuro-Psy Biological Psych

22. Are there any link between Schizophrenia and Homocystinuria?
Moustafa, 2014 Front Behav Neurosc

23. Are there any link between Schizophrenia and Homocystinuria?
PYRIDOXINE
DOPAMINE
GABA
SEROTONINE
NORADRENALINE
Miyake, 2010 CNS Neuroscience & Therapeutics
Kennedy, 2016 Nutrients

24. HOMOCYSTINE
SCHZOPHRENIA
HOMOCYSTINE

25. HOMOCYSTINE
SCHZOPHRENIA
HOMOCYSTINE
DEPRESSION

26. HOMOCYSTINE
SCHZOPHRENIA
HOMOCYSTINE
DEPRESSION
BIPOLAR DISORDER

27. INTELECTUAL DISABILITY
Intellectual disability:
Deficits in general mental abilities: problems solving, planning, abstract thinking
Impairment in everyday adaptive functioning: independence and social responsibility
During the developmental period: delayed motor, language and social milestones
Mazzocco, 2007 Neurogenetics Neurodevelopl Dis.
DSM-5, Am Psy Assoc
Yayoi Kusama

28. INTELECTUAL DISABILITY
Intellectual disability:
Prevalence:
50% pyrodoxine responders
80% non-responders
Classical Homocystinuria:
Good adherence: IQ Population average
Poor adherence: Low IQ
Mazzocco, 2007 Neurogenetics Neurodevelopl Dis.
DSM-5, Am Psy Assoc
Yayoi Kusama

29. MANAGEMENT STRATEGIES
Multidisciplinary team!
Diagnose better: Better treatment

30. MANAGEMENT STRATEGIES
Multidisciplinary team!
Diagnose better: Better treatment
We need more studies!!

31. MANAGEMENT STRATEGIES
Multidisciplinary team!
Diagnose better: Better treatment
We need more studies!!
Early interventions: pharmacological, psychological and social

32. MANAGEMENT STRATEGIES
Multidisciplinary team!
Diagnose better: Better treatment
We need more studies!!
Early interventions: pharmacological, psychological and social
End the stigma!

33. Thank You!