ASD in girls and women

Transcription

1 ASD in girls and women Patricia J.M. van Wijngaarden-Cremers MD Addiction & Developmental Psychiatry Dimence GGz Zwolle UMCN St. Radboud Karakter CAP Nijmegen The Netherlands

2 Disclosures Patricia van Wijngaarden-Cremers Speakerslist: Janssen Cilag

3 Outline of the Presentation Introduction Gender matters in development and psychopathology Levels of Expression of Psychopathology (Endophenotypes) What do genetics tells us literature Clinical practice Research data Concluding Remarks

4 ASD Not limited to boys nor childhood High persistence of impairment More and more first diagnosis in adulthood Far more girls and women are concerned: shifts in prevalence ration (ASD 1/4) Most research & management policies are based on studies in boys. Adults & women are insufficiently acknowledged

5 Development an interactive process with gender influences! Genetics womb environment Infections toxins-stress Epigenetics womb environment Brain connections and circuits environment Neuropsychological profile environment Clinical Picture Social Environment

6 Evolutionary Perspective In prehistoric societies: : responsible for social cohesion in the group - attractive women: know how to relate and pacify strong social and communicative skills : responsible for acquisition of nurture - appealing men: are detail geared hunters do not interfere with the social life in the group

7 Evolutionary Perspective Women are characterized by : Social skills and qualities Strong verbal capacities an Analog way of thinking: sensitive to and able to integrate emotional aspects

8 Evolutionary Perspective Men are characterized by Strong emphasis on details Logic reasoning (mathematic precision) One-sided perseverance on a particular theme (scientist: e.g computer technology) More digital (binary: black and white) way of thinking

9 Evolution No clear-cut boundaries between women and men A normal distibution along Gauss curves Extreme male thinking But many women are more male thinkers than many men

10 Gender influences Connectivity Perception global vs. detailed Neurotransmitters Serotonin Dopamine Neuropsychological Blaming oneself vs. others Behavior & emotion Implosive vs. explosive

11 Endophenotypes Same underlying endophenotype: Depression vs. conduct disorder Anxiety / depression vs. Aggression Victim vs. Perpetrator Guilt vs. blaming

12 What do genetics tell us? In 10-15% ASD due to a known medical condition 85% of the variance explained by heritability In interaction with environmental factors: Drugs/Medication? (Prenatal) infections? Exposure to hormones e.g. testosterone???

13 What do genetics tell us? To date genes have been identified on as many as 17 chromosomes Especially on chromosomes 7 and 15 BUT also on the X- chromosome

14 What do genetics tell us? David Skuse (London 2006) In Turner (X-O) patients high prevalence of autism Turner girls with ASD have an X- chromosome from their mothers (Silent Copy s)

15 What do genetics tell us? David Skuse concluded : that theoretically Autistic fathers could pass on ASD Mothers can be carriers autistic traits can be located on the X chromosome without expressing themselves (recessive characteristic) Chromosomes are passed through daughters who will only develop autistic traits if they inherit two affected X- chromosomes

16 Recent Studies From the group of Simon Baron-Cohen Chakrabarti B, Dudbridge F, Kent L, Wheelwright S, Hill-Cawthorne G, Allison C, Banerjee-Basu S, Baron-Cohen S. (2009) Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome. Autism Res. 2(3): candidate genes where screened in relation to a) promoting attachment and socialization b) involved in planning and organizing behaviour c) rigid patterns of reacting to social situations

17 the Chakrabarti & Baron-Cohen Study 2009 normal controls from a general population where ordered from no atuistic traits to pronounced autistic traits and compared to men and women diagnoses with ASD From the 84 genes 5 emerged as charateristic TWO of which (socialisation and detail perception versus global processing) are located on the X-chromosome!

18 What does literature tell us about Sex Differences in ASD?

19 Asperger s & Girls Tony Attwood 2006 : are more often referred (extern./aggressive behaviour) : - passive personalities - more often mothered by other - well motivated at school - eager to attend drama classes - more often involved in imaginary friends - preoccupied with animals and classic literature - problems increase in adolescence

20 What does literature tell us about Sex Differences in ASD? Boys tend to have higher IQ s Boys have more restricted play Girls have stronger communication skills Sex-related social difficulties emerge over time Boys are more easily distracted Disruptive behaviour is different to gain objects to acquire care-givers attention

21 In Clinical Practice Case M - 20 years of age - addicted to cocaine and misuse of cannabis and other - 6x unsuccessful treatments in different clinics - victim of sexual abuse - diagnosed as a borderline personality

22 In Clinical Practice 2 After detox: - High levels of Anxiety - Chaotic - Severe attention problems / ADHD - Compulsive - Problems with social relations After two years ASD is diagnosed

23 Data from our Adult Cohort UMCN + Dimence UMCN ASD clinic 131 men, 31 women (4:1) Dimence Addiction & Developmental Disorders 98 men, 18 women (5:1) Total Population in the Study 278 cases 229 men 49 women (4.5:1)

24 Mean age All: 36y Women: 34,7y Men: 36,6y p =0,4

25 Age distribution

26 Gender differences ASD criteria

27 Gender differences ASD criteria All diagnoses considered in one analysis Significant differences Restricted pattern of interest greater in men: p=0.001 Persistent preoccupation greater in women: 0.047

28 Gender differences autism at item level

29 Gender differences ASD criteria ASD one analysis Sum of diagnostic criteria No significant difference

30 Gender differences co-morbidity

31 Gender differences co-morbidity Life events more frequent in women

32 Women with ASD: symptoms and additional problems Girls with clear-cut Kanner-autism and low IQ s are not missed in screening programs In Girls with high IQ and mild ASD traits the symptoms go unnoticed behind Anxiety Learning difficulties Mood swings

33 Women with ASD: symptoms and additional problems Good language skills and some social empathy blur the clinical picture Girls/Women with ASD tend to be overanxious and fuss (on to getting depressive) whereas boys/men with ASD do not seem to feel awkward or guilty. Girls/Women can show compensatory obsessive-compulsive behaviour s (eating disorders and addiction)

34 Relationships and Sexuality Sexuality in ASD is still often a taboo subject!!! ASS is a cognitive disorder without biological deviances Women with ASD have great problems and many questions with regards to sexuality But mostly they can easily become victims of sexual abuse (eager as they are to get contact with others but at what price!!!)

35 Conclusions ASD Women later diagnosis because of feminine qualities (social) information processing defects often overlooked or masked by comorbidity!

36 Conclusions Women Diagnosing ASD in girls and women is difficult especially in milder cases Co-morbidity plays a very important (blurring role) Be acutely aware of signs of abuse and misuse ( with ASD suffer a great deal because they cannot of dare not to express themselves)

37 Concluding Remarks Gender important role in devel. coping styles and behavioural patterns. Reflected in psychopathology Understanding clinical syndromes benefits insights in genetics, brain connectivity and neuropsychology... (are all influenced by gender!) Clinicians develop awareness of gender influences assessing girls and women Symptoms presented often do not match the criteria mostly developed on boys and men

38 Thank you for your kind attention