Developmental disorders

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  • Created by: freya_bc
  • Created on: 05-05-17 18:56
What factors mean a disorder has a genetic cause?
Genetic inheritance at fertilisation, production of sperm/egg, genetic aberration/mutation
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Name two disorders that are putatively caused by genetics?
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Name a disorder with an environmental cause
Cerebral palsy
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What is the prevalence of Fragile X syndrome?
1 in 3,600 males
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What is the cause of Fragile X?
genetic abnormality in X chromosome
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What are the characteristics of Fragile X?
Under development or intelligence, growth and appearance
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How does Fragile X affect appearance?
Long thin faces, large, ears, double jointed, poor muscle tone, underdeveloped foot arch
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How does Fragile X affect intelligence?
Assoc with impaired neuro dev t/f difficulties in social and intel functioning- Brown et al., (1982) similar to autism, cannot hold attention, hyperactivity so struggle to hold info- frontal lobe undev impaired EF
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Further details
repetitive behaviour, sensitivity to senses, OCD tendencies, uneven intel profile, social anx, less eye contact, struggle with facial expression/take turns talking
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Is there a cure?
No but adaptation through schooling and parenting
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What is the prevalence of Rett's syndrome?
1 in 12,500 females
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Cause of Retts?
spontaneous mutation on X chromosome- moderate to severe depending on level of mutation
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Main feature of Retts
Chromsome abnormality affects balance of chemistry in brain which impacts on neurological growth- small head- degenerative and progressive
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How long with people with Retts appear normal?
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When do problems begin?
When they start walking/talking
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What are the symptoms then?
Limited eye contact and social dev, lack of gaze following- can normally do by 18mo, poor coordination, loss of ability to walk
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Prevalence of Downs syndrome
1/1000, higher risk in older mothers
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What is the cause of Down's syndrome?
Trisomy 21
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Features of Downs syndrome?
Thyroid abnormalities, stunted growth, small head, round face, small chin, large tongue, heart/lung/digestive issues, vulnerable to ear infections
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What are the implications for later life?
Higher risk of developing neurological disorder assoc with later years e.g. Alzheimers
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Describe their social and intellectual development
Very affectionate, interpersonally sensitivity, but delay in speech/lang/muscle control for fine movement. Common mod/severe learning disabilities- lang problem secondary to hearing/speech/speech impediment, comprehension better than production.
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Can be mainstream schooled but gap in ability widens as they get older
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Prevalence of turners syndrome
1 in 2,500 females
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Cause of Turners syndrome
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Characteristics of Turners syndrome
stunted growth, underdev torso, webbed neck, infertile, HD, sensory impairment hearing/vision, underactive thyroid, diabetes, vulnerable to illness, not marked learning disabilities- issues with maths/spatial
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Skuse et al., (1997)
impaired social understanding but milder than autism
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Prevalence of Autism (Baird ett al., 2006)
1 in 100-, 750K in UK, more common in boys- girls have compensating qualities
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Bettelheim (1967)
not caused by MMR vaccine or bad parenting- cold parenting is barrier to learning about social world
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Autism heritability
High- features in other members of the family who also struggle with the social world
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Pickles et al., (1995)
ASD interactionism not fully understood
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Features of ASD
marked social inability, poor communication, narrowing interests, pref routine, lang delay- those who dont have this are high functioning/intel in normal range/ aspergers- excel in physical world, struggle socially
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Baron-Cohen et al., (1985)
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Frith, (1989)
Theory of Weak Central Coherence - embedded figures test and block design
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Williams syndrome prevalence
1 in 10,000
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Causes of Williams syndrome
truncation of chromosome 7
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Features of Williams syndrome
Cognitive profile opposite to autism, distinctive appearance, heart abnormalities, hormonal/digestive/neurological problems, learning disabilities, very engaging, highly sociable/talkative, poor visuo-spatial/memory for layout of physical envi/map
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Distinctive appearance of people with Williams sydrome
Fragile, underweight, large eyes, low bridge of nose, widely spaced teeth, small teeth, large gums
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ADHD prevalence
2:100 2-3% children, over a million in the UK, more common in boys
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ADHD heritability (Saviouk et al., 2011)
75%- features meausrable across family, concordance
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McCann et al., (2007)
some children genetically vulnerbale to dev ADHD so envi greater impact - diet- consumed sugar more hyperactive than when placebo
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Features of ADHD
marked inattention/unresponsive/distractible, hyperactive/internal dynamo/fidgeting/talk inexhaustively, impulsive/unwilling to cue, impaired EF due to PFC
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What does ADHD link to?
Frontal syndrome- damaged frontal lobes assoc with disinhibition and lack of social sensitivity
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Barkley (1997)
impairments in EF assoc with frontal lobes and PFC- controlling own mental processes and behaviour- cog disorder- issues with inhibiting behaviour/planning, struggle to control emotions - uninhibited anger
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Songua-Barke (2005)
disorder of reward and motivation, struggle with delayed gratification, marshmallow task, cannot regulate themselves
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Ritalin- stim effect similar to amphetamine and cocaine in small doses
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Prevalence of Tourettes syndrome
1% pop, 3:1 more common in boys
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Onset of tourettes?
early to middle childhood 7-10yo
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When are symptoms most severe?
Adolescence and or early adulthood then declines
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Symptoms of tourettes syndrome?
swearing, tics-blinking/throat clearing/stereotyped facial movements/vocalisations/shrugging/shouting
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Denkla, (2006)
assoc with impairment in EF t/f children impulsive and distractible- risk of developing broader features of ADHD
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Baer, (2001)
co-occurs with OCD- assoc compulsive ritualistic behaviour, obsessive cleanliness, aversion to touching things touched by others e.g. coins
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Cerebral palsy prevalence?
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Cause of CP
Damage to brain due to hypoxia- placenta not supplying blood to dev baby, trauma at birth, premature
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Nelson and Grether, (1999)
lungs dont function efficiently- caused by an event causing shortage of oxygen in the brain, choking, nearly drowning
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poor movement control (damage to motor cortex/connections between m.c and cerebellum- lack fine motor control) due to brain plasticity can function normally, depth perception issues, hearing issues, speech impediment- lack breathe control/face muscl
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Fennell and Dikel (2001)
heightened sensitivity to touch
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Jenks et al., (2007)
learning disability- but some have intellectual functioning in normal or high ability range
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Zafeirioi, Konotpoulos and Tsikoulas, (1999)
risk of epileptic seizures- 30% of cases- sign of cerebral brain damage, evident from first year of life
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Occupational therapy for movement and epileptic seizures with medication, surgical treatment for secondary problems e.g. limbs compensatory functions
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Language disorder (SLI) prevalence
7:100, more common in boys
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Areas implicated in some of these disorders
Brocas (frontal) assoc with muscles that produce lang/grammar, Wernickes (temp) speech comprehension near auditory cortex, adjacent to motor, controlling jaw/mouth
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Developmental dyslexia features
dif reading/spelling not explained by generally poor ability, struggle to ID syllables/rhyming/discrim sounds, alphabet learning was hard, poor handwriting/slow speed/cerebeullum issues
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Lindgren et al., (1985)
DD more common in non-transparent languages like English than Italian/Japanese- mapping of letters isnt same as sound produced read/read
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dyslexia acquired during adulthood following neurologicla damage caused by accident or illness
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Influencing factor?
Language centres of brain in left hemisphere (Wernicke- production, Broca- comprehension) left dominant= right handed, area assoc with motor production close to lang area- if right hemi dominant deficit in these areas more so, increased risk dyslexic
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Rodrigeuz et al., (2010)
most left and right handed people have equal dominance in both sides of brain- 1% don’t have unliteral dominance so could be more at risk but especially ADHD more so than dyslexia
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SLI- Semantic language impairment
marked delay in dev of receptive and expressive language abilities, speaking disorder not from hearing difficulties or brain damage, struggle comprehension, issues with past tense, plural forms of nouns and definite/indefinite article
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PLI- Pragmatic language impairment/semantic pragmatic disorder
Disorder of the social use of language- some similarity to ASH, unsuitable topics, unusual eye gaze/postures/gestures/ hyperlexia for obscure words a specialist topic struggle with common words e.g. mental states- fear/disgust/sadness, pausew/common
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meaninglessly repeating words and phrases that you have just heard- also occurs in autism
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Pronoun reversals
confusions over whether should use I or you - occurs in autism
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Name two disorders that are putatively caused by genetics?



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Name a disorder with an environmental cause


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Card 4


What is the prevalence of Fragile X syndrome?


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What is the cause of Fragile X?


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