ASD in girls and women

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

Disclosures Patricia van Wijngaarden-Cremers Speakerslist: Janssen Cilag

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

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

Development an interactive process with gender influences! Genetics ↨



womb environment Infections –toxins-stress

Epigenetics ↨



womb environment

Brain connections and circuits ↨



environment

Neuropsychological profile ↨



Clinical Picture ↨

Social Environment

environment

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

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…

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

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…

Gender influences • Connectivity • Perception global vs. detailed

• Neurotransmitters • Serotonin • Dopamine

• Neuropsychological • Blaming oneself vs. others

• Behavior & emotion • Implosive vs. explosive

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

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???

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

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

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 Xchromosomes

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):157-77.

• 84 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

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!

What does literature tell us about Sex Differences in ASD ?

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

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

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

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

Data from our Adult Cohort UMCN + Dimence 2007-2009 • • • •

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)

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

Age distribution

Gender differences ASD criteria

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

Gender differences autism at item level

Gender differences ASD criteria

• ASD one analysis • Sum of diagnostic criteria • No significant difference

Gender differences co-morbidity

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

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

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)

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!!!)

Conclusions

ASD

– Women later diagnosis because of “feminine qualities” – (social) information processing defects often overlooked or masked by comorbidity!

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)

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

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Thank you for your kind attention