Week 6 Flashcards
Autistic spectrum disorder (autism)
Inability to initiate and sustain reciprocal social interaction and communication alongside having habits of repetitive restricted behavioural patterns. May have sensory troubles. Can have a range of intellect or learning ability.
Siblings with ASD makes an individual 50% more likely to have it also. Often have genetic defect or chromosome abnormality like down syndrome or fragile X or metabolic issue (PKU, creatinine deficiency, purine disorders etc).
Affected by parental age, teratogens, valproate, gestational diabetes, congenital rubella, flu and CMV.
Also related to mental illness/parental, ADHD, cerebral palsy, muscular dystrophy, neurofibromatosis, tuberous sclerosis, infantile encephalopathy.
Other under the umbrella: Rett syndrome (Impairments in language and coordination, and repetitive movements, slower growth, smaller head, seizures, scoliosis, Xlinked in girls), Hellers/childhood disintegrative disorder (more epilepsy and anxiety, regressive function, decline from 3/4-10 ), Kanner’s syndrome (stage 3 autism) Asperger’s (stage 1), and pervasive developmental disorder (other).
Common features of ASD/autism
Language delay, babbling, flat intonation, little smiling or social engagement, little or too much regard of personal space, little enjoyment of playing with other children, difficult eye contact, gaze switching, less imagination, repetitive habits, sensory over stimulation, fixation upon routine, hyperfocusing, rigidity of thought, naivety, variable intellect.
ASD associated medical concerns
Epilepsy, visual/hearing difficulties, depression, anxiety, OCD, ADHD, General Learning Disability, sleep disorders.
Features of anorexia
Refusal to maintain healthy BMI eg 17.5 or less, dieting or foods restriction, fear of gaining weight, dysmorphia, denial, over-exercising, induced vomiting, overuse of laxatives, amenorrhoea.
Monitoring:
An ESR and TFTs are useful screens for other causes of weight loss.
U&Es should be checked in all those with behaviours such as vomiting, taking laxatives or diuretics or water loading.
In patients with eating disorders and BMI below 15, a history of purging or high risk markers, frequent testing for FBC, ESR, U&Es, creatinine, glucose, LFTs and TFTs is required.
Consider a dual-energy X-ray absorptiometry (DXA) scan after a year of being underweight in those below 18 years of age (earlier if fractures or bone pain) and after two years in adults. Consider ongoing monitoring with DXA scans if they remain underweight, but no more often than every year.
An ECG may show bradycardia or a prolonged QT interval in those with more severe anorexia.
Anorexia admission criteria adult
Nutrition: BMI of 13-15 conveys medium risk; a BMI <13 is high risk. Note that BMI alone is not an adequate marker of medical risk.
Rate of weight loss: more than 0.5 kg per week.
Pulse rate: below 40 beats per minute.
Blood pressure (BP): systolic BP below 90 mm Hg
Squat test: unable to get up from squatting or lying down without using arms for balance or leverage.
Core temperature below 35°C.
Blood tests: low potassium, sodium, magnesium or phosphate. Raised urea, creatinine or transaminases. Low albumin or glucose.
ECG: prolonged QT interval, T-wave changes, bradycardia.
Anorexia therapy
Psychological treatment options for adults include:
Individual eating-disorder-focused cognitive behavioural therapy (CBT-ED). This typically involves 40 sessions over 40 weeks, starting more often than once per week.
Maudsley Anorexia Nervosa Treatment for Adults (MANTRA). This usually involves 20 sessions, weekly for the first ten weeks, then depending on response.
Specialist supportive clinical management (SSCM). This also involves 20 or more weekly sessions with a specialist practitioner.
If under 18- anorexia nervosa focused family therapy FT-AN and CBT.
Anorexia complications
Hypotension, hypokalaemia, anaemia, thrombocytopenia, hypoglycaemia, osteoporosis, constipation, infertility, infection, kidney stones, AKD/CKD, anxiety.
Smith Magenis syndrome
Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems.
Most people with Smith-Magenis syndrome have a broad, square-shaped face with deep-set eyes, full cheeks, and a prominent lower jaw. The middle of the face and the bridge of the nose often appear flattened. The mouth tends to turn downward with a full, outward-curving upper lip. These facial differences can be subtle in early childhood, but they usually become more distinctive in later childhood and adulthood. Dental abnormalities are also common in affected individuals.
Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, typically beginning early in life. Affected people may be very sleepy during the day, but they have trouble falling asleep at night and awaken several times during the night and early morning.
People with Smith-Magenis syndrome typically have affectionate, engaging personalities, but most also have behavioral problems. These include frequent temper tantrums and outbursts, aggression, anxiety, impulsiveness, and difficulty paying attention. Self-injury, including biting, hitting, head banging, and skin picking, is very common. Repetitive self-hugging is a behavioral trait that may be unique to Smith-Magenis syndrome. Some people with this condition also compulsively lick their fingers and flip pages of books and magazines (a behavior known as “lick and flip”).
Other signs and symptoms of Smith-Magenis syndrome include short stature, scoliosis, reduced sensitivity to pain and temperature, and a hoarse voice. Some people with this disorder have ear abnormalities that lead to hearing loss, nearsightedness (myopia) and other vision problems. Although less common, heart and kidney defects also have been reported in people with Smith-Magenis syndrome.
Often a deletion in chromosome 17.
Mosaic Down Syndrome
A baby would be said to have mosaic Down syndrome if: 5 of the 20 cells have the typical number of 46 chromosomes; the other 15 have a total of 47 chromosomes due to an extra chromosome 21.
Since the percentage of cells with an extra chromosome is 15 out of 20, the baby would have a level of mosaicism at 75%. The percentages may vary in different parts of the body. The percentage of cells in the muscle may differ from the percentage in the brain, blood, or skin.
Babies born with mosaic Down syndrome can have the same features and health problems as babies born with trisomy 21 or translocation Down syndrome. However, it is possible that these babies may have fewer characteristics of the syndrome than those with other types of Down syndrome.
General Learning Disability
Lower intellectual ability (usually an IQ of less than 70).
Significant impairment of social or adaptive functioning.
Onset in childhood.
Also includes:
significantly reduced ability to understand new or complex information, or to learn new skills
impaired intelligence with;
a reduced ability to cope independently (impaired social functioning);
which started before adulthood, with a lasting effect on development.
There are IQ gradings also:
A person with an IQ of 20-34, a severe learning disability
A person with an IQ of 35-49, moderate learning disability
A person with an IQ of 50-70, mild learning disability.
Other causes of learning (intellectual) disability
Genetic: chromosome disorders - trisomy (eg, Down’s syndrome), deletion (eg, cri du chat syndrome), sex chromosome anomaly (eg, fragile X syndrome, Klinefelter’s syndrome, Turner syndrome).
Metabolic: amino acid (eg, phenylketonuria), carbohydrate (eg, galactosaemia), lipid (eg, Tay-Sachs disease, Gaucher’s disease, Niemann-Pick disease), mucopolysaccharidoses (eg, Hurler’s syndrome).
Cerebral degeneration: eg, gangliosidoses, leukodystrophies.
Structural disorders: eg, tuberous sclerosis, familial hydrocephalus, neurofibromatosis.
Intrauterine:
Nutritional deficiency: eg, iodine deficiency.
Congenital infection: eg, cytomegalovirus, rubella, toxoplasmosis.
Drugs: eg, phenytoin, alcohol.
Cerebral malformations: eg, holoprosencephaly, lissencephaly.
Perinatal:
Antenatal: eg, pre-eclampsia, antepartum haemorrhage, premature labour.
Intrapartum: eg, prolonged labour, trauma, asphyxia.
Neonatal: eg, intraventricular haemorrhage, hypoglycaemia, meningitis, severe neonatal jaundice.
Postnatal:
Accidental or non-accidental injury.
Infection: eg, encephalitis, meningitis.
Anoxia: asphyxia, status epilepticus, near drowning.
Metabolic, endocrine: hypoglycaemia, hypernatraemia, hypothyroidism.
Poisoning: lead, carbon monoxide.
Malnutrition.
Developmental delay
Developmental delay occurs when a child does not achieve developmental milestones in comparison to peers of the same age range. The degree of developmental delay can be further classified as mild (functional age < 33% below chronological age), moderate (functional age 34%–66% of chronological age) and severe (functional age < 66% of chronological age).(1) A significant delay is defined as performance that is two or more standard deviations below the mean on age-appropriate standardised norm-referenced testing (usually conducted in secondary or tertiary care settings).(2)
The delay can be in a single domain (i.e. isolated developmental delay) or more than one domain. A significant delay in two or more developmental domains affecting children under the age of five years is termed global developmental delay (GDD).
Attention Deficit Hyperactivity Disorder
Inattention: six or more symptoms of inattention for children up to age 16 years, or five if older, for at least six months, and they are inappropriate for developmental level:
Often fails to give close attention to details or makes careless mistakes in schoolwork, at work, or with other activities.
Often has trouble holding attention on tasks or play activities.
Often does not seem to listen when spoken to directly.
Often does not follow through on instructions and fails to finish schoolwork, chores, or duties in the workplace
Often has trouble organising tasks and activities.
Often avoids, dislikes, or is reluctant to do tasks that require mental effort over a long period of time (such as schoolwork or homework).
Often loses things necessary for tasks and activities (eg, school materials, pencils, books, tools, wallets, keys, paperwork, eyeglasses, mobile telephones).
Is often easily distracted
Is often forgetful in daily activities.
Hyperactivity and impulsivity: six or more symptoms of hyperactivity-impulsivity for children up to age 16 years, or five if older. For at least six months to an extent that is disruptive and inappropriate for the person’s developmental level:
Often fidgets with or taps hands or feet, or squirms in seat.
Often leaves seat in situations when remaining seated is expected.
Often runs about or climbs in situations where it is not appropriate (adolescents or adults may be limited to feeling restless).
Often unable to play or take part in leisure activities quietly.
Is often ‘on the go’ acting as if ‘driven by a motor’.
Often talks excessively.
Often blurts out an answer before a question has been completed.
Often has trouble waiting his/her turn.
Often interrupts or intrudes on others (eg, butts into conversations or games).
In addition, the following conditions must be met:
Several inattentive or hyperactive-impulsive symptoms were present before age 12 years. (This is set to be ‘early to mid-childhood’ in ICD-11.)
Several symptoms are present in two or more settings, (eg, at home, school or work; with friends or relatives; in other activities).
There is clear evidence that the symptoms interfere with, or reduce the quality of, social, school or work functioning.
The symptoms are not better explained by another mental disorder.
Combined presentation: if enough symptoms of both criteria inattention and hyperactivity-impulsivity were present for the previous six months.
Predominantly inattentive presentation: if enough symptoms of inattention, but not hyperactivity-impulsivity, were present for the previous six months.
Predominantly hyperactive-impulsive presentation: if enough symptoms of hyperactivity-impulsivity but not inattention were present for the previous six months.
Pharm management of ADHD
Lisdexamfetamine or methylphenidate(this preferred for children) may be used as first-line pharmacological treatment.
If either is not sufficiently effective after six weeks, consider switching to the other.
Consider dexamfetamine where ADHD symptoms are responding to lisdexamfetamine but it is not tolerated.
Angelman syndrome
Partially defective chromosome 15. Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep problems. Children usually have a happy personality and have a particular interest in water. The symptoms generally become noticeable by one year of age.
Dyspraxia
Coordination disorder. If you have dyspraxia it may affect:
Your co-ordination, balance and movement
how you learn new skills, think, and remember information at work and home
your daily living skills, such as dressing or preparing meals
your ability to write, type, draw and grasp small objects
how you function in social situations
how you deal with your emotions
time management, planning and personal organisation skills.
It’s not known what causes dyspraxia. You may be at a higher risk of developing it if you were born prematurely.
Dyspraxia is more common in men and often runs in families.
