Autism Spectrum Disorder: A Fresh Look ASD in Females Andrea Fourie Speech Therapist
ASD: Prevalence and Incidence • 3-4:1 male to female ratio • ASD with intellectual impairment - 1:2 • ASD with no intellectual impairment - 9-10:1 • 1 in 68 children • Regression in skill - 30% • Intellectual impairment - 60% • Micro/macrocephaly - 30% • Approx $1.5-2.5 mil per person with ASD (Alaerts et al, 2016; Butler et al, 2015; Cremers et al, 2014; Impact Learning - ASD in Females 2019 - Andrea Fourie Lyall et al, 2017)
DSM - V A. Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history: 1.Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions. 2.Deficits in nonverbal communicative behaviours used for social interaction, ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication. 3.Deficits in developing, maintaining, and understand relationships, ranging, for example, from difficulties adjusting behaviour to suit various social contexts; to difficulties in sharing imaginative play or in making friends; to absence of interest in peers (https://www.cdc.gov/ncbddd/autism/hcp-dsm.html) Impact Learning - ASD in Females 2019 - Andrea Fourie
DSM - V B. Restricted, repetitive patterns of behaviour, interests, or activities, as manifested by at least two of the following, currently or by history: 1. Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor stereotypes, lining up toys or flipping objects, echolalia, idiosyncratic phrases). 2. Insistence on sameness, inflexible adherence to routines, or ritualised patterns of verbal or nonverbal behaviour (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat same food every day). NB: RRBIs not specific to ASD (https://www.cdc.gov/ncbddd/autism/hcp-dsm.html) 3. Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment Impact Learning - ASD in Females 2019 - Andrea Fourie to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).
DSM - V Severity is based on social communication impairments and restricted, repetitive patterns of behaviour. C.Symptoms must be present in the early developmental period (but may not become fully manifest until social demands exceed limited capacities, or may be masked by learned strategies in later life). D.Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning. E.These disturbances are not better explained by intellectual disability (intellectual (https://www.cdc.gov/ncbddd/autism/hcp-dsm.html) developmental disorder) or global developmental delay. Intellectual disability and Impact Learning - ASD in Females 2019 - Andrea Fourie
ASD and Co-Morbidities • Intellectual disabilities • Physical conditions • Epilepsy • Sleep challenges • Gastrointestinal disorder • Motor apraxia • Hypotonia • Mental health issues • Anxiety • Depression • Eating disorders • Behaviour problems (Matson et al, 2011; Impact Learning - ASD in Females 2019 - Andrea Fourie Matson & Goldin, 2013)
Neurobiology - ASD • Posterior Superior temporal sulcus (STS) – identified as being the “social perception” centre • Responsible for theory of mind, action/emotion understanding • Research has shown decreased white matter volume in posterior STS; temporal hypo-perfusion, decrease in grey matter on inferior frontal gyrus, inferior parietal lobe and STS in males with ASD (Alaerts et al, 2016; Zilboivicius et al,2013) Impact Learning - ASD in Females 2019 - Andrea Fourie
Neurobiology - ASD • Frontal and Parietal Processing • Medial prefrontal cortex + temporo-parietal junction • = “mentalising network” • Reduced blood oxygen level dependent activity in: • frontal and temporo-parietal [bilateral superior temporal gyrus and, left middle temporal gyrus, bilateral TP junction and the posterior cingulate cortex/precuneus and temporal poles] (Alaerts et al, 2016; Zilboivicius et al,2013) Impact Learning - ASD in Females 2019 - Andrea Fourie
Neurobiology - ASD • Females with ASD = neurobiological responses similar to neuro-typical controls when processing social information while affected males displayed reduced activity in key mentalizing regions. • Males with ASD= hypo-connectivity of post. STS + post. cingulate cortex • Females with ASD = hyper-connectivity similar to typical male controls • “Extreme male brain” theory • Influence of sex hormones (foetal testosterone = cognitive hypermasculinisation) (Alaerts et al, 2016; Werling and Geschwind, 2013; Zilbovicius et al,2013) Impact Learning - ASD in Females 2019 - Andrea Fourie
Research on ASD in Females • Core Deficit Differences • Similar severity in communication and social areas • Greater internalising symptoms i.e. anxiety, depression, etc • Decreased repetitive and restrictive behaviours and interests • Worse: behavioural problems, irritability, lethargy and self- injurious behaviour • Friendship quality similar to typically developing males • Friendship “camouflage effect” (Cremers et al, 2014 Frazier et al, 2014 Impact Learning - ASD in Females 2019 - Andrea Fourie Head et al, 2014)
Research on ASD in Females • Core Deficit Differences • Interests • Similar to those of same age peers • More gender typical pretend play than males with ASD – Intensity of such interests = abnormally strong and fewer attempts are made to engage others in their play – Not “what” they play with but “how” • Passivity often perceived as “shyness” • Episodes of eating disorders • High correlation between ASD and anorexia nervosa in females • Increased sensory issues; staring spells ; seizure-like activity and sleep problems (Kreiser & White, 2014; Lai et al, 2015) Impact Learning - ASD in Females 2019 - Andrea Fourie
Research on ASD in Females • Profile and Presentation • More interest in social relationships • More socially accepted special interests • Difficulty with peer relationships • Increased imaginative play (Cremers et al, 2014) Impact Learning - ASD in Females 2019 - Andrea Fourie
Research on ASD in Females • Diagnosis • Delayed/missed in females • Often receive other diagnoses: • Social phobia • Borderline personality • Social communication disorder • DSM-V biased towards males? (Cremers et al, 2014) Impact Learning - ASD in Females 2019 - Andrea Fourie
Research on ASD in Females Theoretical Model (Kreiser & White, 2014, p. 74) Impact Learning - ASD in Females 2019 - Andrea Fourie
Clinical Implications • Early diagnosis and early intervention • Communication and problem behaviours and stress in parents • Decreased RRBIs = higher functioning females with ASD missed or diagnosed with other conditions • Consider cultural and societal norms • Toy selection and “gendered” play • NB to compare with same age peers • School/classroom visits (Begeer et al, 2013 Cremers et al, 2014 Frazier et al, 2014) Impact Learning - ASD in Females 2019 - Andrea Fourie
Clinical Implications • Testing protocols and assessments • ADOS missed diagnosis in already diagnosed female adults with ASD (Lai, 2011) • Need to consider clinical profile and picture • NB to compare with same age peers • School/classroom visits • Consider play - what, how and quality • Response to social interaction (Kreiser & White, 2014) Impact Learning - ASD in Females 2019 - Andrea Fourie
Questions Impact Learning - ASD in Females 2019 - Andrea Fourie
References Alaerts, K., Swinnen, S. & Wenderoth, N. (2016). Sex difference Sex in autism: a resting-state fMRI investigation of functional brain connectivity in males and females. Social Cognitive and Affective Neuroscience, 11, p1002 – p1016. Begeer, S. et al. (2013). Sex differences in the timing of identification among children and adults with autism spectrum disorders. Journal of Autism and Developmental Disorders, 43, p.1151-1156. Butler, M., Rafi, S., Hossain, W., Stephan, D & Manzardo, A. (2015). Whole Exome Sequencing in Females with Autism Implicates Novel and Candidate Genes. International Journal of Molecular Sciences, 16, p.1312-p1335 Frazier, T., Georgiades, S., Bishop, S. & Hardan,A. (2014). Behavioural and cognitive characteristics of females and males with autism in the Simons Simplex Collection. Journal of American Academy of Child and Adolescent Psychiatry, 53, p.329-340. Head, A., McGillivray, J. & Stokes, M. (2014). Gender differences in emotionality and sociability. Molecular Autism, 5, p.1- 9 Kreiser, N. & White, S. (2014). ASD in Females: Are We Overstating the Gender Difference in Diagnosis? Clinical Child and Family Psychology Review, 17, p.67-84 Impact Learning - ASD in Females 2019 - Andrea Fourie
Recommend
More recommend
