Nutrition and Genetics Flashcards
what are the 2 most commonly seen conditions in malnutrition
o Kwashiorkor severe deficiency of proteins/essential amino acids
o Marasmus severe energy (calorie) deficiency
aetiology of malnutrition
- diet dec in protein, energy or specific nutrients
- strict vegetarian diets
- disease causing malabsorption coeliac disease, CF, IBD, severe GORD, immunodeficiency, chronic infection
- eating disorder anorexia nervosa
clinical features of malnutrition
- Kwashiorkor – growth retardation, diarrhoea, apathy, anorexia, oedema, skin/hair depigmentation, abdo distension + fatty liver
- Marasmus – height preserved compared to weight, wasting, muscle atrophy, lethargy, diarrhoea + constipation
Ix for malnutrition
• diet assessment – parents are asked to record the food the children eat
• Anthropometry – skinfold thickness of triceps/mid-upper arm circumference reflect subcutaneous fat stores and skeletal muscle mass respectively
• History
• refer to paediatric dietician for nutritional status
o upper mid-arm circumference < 115mm = severe malnutrition
o recent weight loss > 10% over 3 m = impaired nutritional status
o weight for height > -3 standard deviations below median on growth chart = severe malnutrition
o BMI
o serum albumin, FBC, U&Es, BM
• Kwashiorkor hypoalbuminemia, normo- and microcytic anaemia, dec Ca/Mg/Phos/glucose
• Marasmus hypoalbuminaemia, dec Hb, dec U&es, dec Ca/Mg/Phso/glucose, stool MC+S for intestinal oca, cysts + parasites
mx for malnutrition
- correct Dehydration and electrolyte imbalance (IV if need)
- treat underlying infection, concurrent/causative disease
- treat nutritional deficiency can be done either enterally or parenterally
- orally re-feed slowly refeeding syndrome (metabolic disturbances)
- if not treated – morbidity and death
what is rickets
- Signifies a failure in mineralisation of the growing bone or osteoid tissues
- failure of mature bone to mineralise = osteomalacia
aetiology of rickets
- Malnutrition and dec Ca
* vit D deficiency – rare in developed countries
clinical features of rickets
• ping-pong ball sensation of the skull craniotabes
o press firmly Over the occipital or posterior parietal bones
• growth delay/arrest
• bone pain + fracture
• muscle weakness
• skeletal deformities bowing of long bones, swelling of costochondral junctions (bone-cartilage junction ricket rosary), frontal cranial bossing
• hypocalcaemia seizures
investigation for rickets
- X-ray of long bones (mostly wrist) – widening of the epiphyseal plate
- serum calcium – maybe dec/inc
- serum inorganic phosphorus – maybe dec/inc
- serum parathyroid hormone level – can be high / low depending on hypocalcaemia or hypophosphatemia rickets
- 25-hydroxyvitamine D levels (calcidiol) – low
- ALP + LFT – elevated
- serum creatine and urea – elevated
- urinary calcium and phosphorus
mx of rickets
- if systemic admission
* calcium and vitamine D supplement calcium + ergocalciferol/colecalciferol
what is the genetic makeup of Klinfelter’s syndrome
extra X materials
47 XXY, 48 XXYY, 46 XY polysomy or mosaic
clinical features of Klinfelter’s syndrome
tall - 6 feet
small testes, hypogonadism, narrow shoulder, wide hips, subfertility
unable to produce sperm
thin and spaced body and facial hair
gynaecomastia
delayed speech and learning difficulties
investigation for Klinfelter’s syndrome
- genetic testing/chromosomal analysis/karotyping XXY males maybe diagnosed before birth amniocentesis or CVS
- serum testosterone low or low normal
- FSH and LH elevated (FSH > LH)
management of Klinefelter’s syndrome
- MDT follow up for any long-term problems aim to reduce risk of long term problems
- regular schedule of testosterone inc strength and muscle size and promote growth of facial and body hair & improve psychological health
- fertility treatment intra-cytoplasmic injection of sperm
what is the genetic make up of Tuner’s Syndrome
• complete or partial absence of 2nd sex chromosome in female mostly sporadic
clinical features of Turner’s syndrome
low setting ears hooded eyes delayed/absent pubertal development webbed neck upper limb hypertension wide carrying angle > 30 degree aorta coarctation and bicuspid aortic valve --> systolic murmur + click sound scoliosis primary amenorrhea • peripheral lymphadenopathy • multiple melanocytic naevi • recurrent/severe otitis media
investigation for Turner’s syndrome
- karyotype
- audiology testing
- ECG
- bone age
- cardiac MRI aorta coarctation and bicuspid aortic valves
- FSH and anti-Mullerian hormone FSH high and AMH low (reduced AMH predicts complete ovarian failure)
management for Turner’s syndrome
- poor growth growth hormone (somatropin) +/- oxandrolone (oral androgen, only use as adjunct and for short period of time)
- low dose oestrogen to induce pubertal development
- cyclic progesterone to induce menstruation
- after fully established oestrogen and progesterone doses ovarian HRT to ensure good bone health
what is cerebral palsy?
• An umbrella term referring to a non-progressive disease of the brain originating during the antenatal, neonatal, or post-natal period when brain neural connections are still evolving
what are the 3 brain areas that are affected in Cerebral palsy
Cortex - spastic & voluntary
Basal Ganglia - dyskinesia & involuntary
cerebellum - ataxic
what are some antenatal causes of CP
o Prematurity, multiple birth, maternal illness (thyroid disease), iodine deficiency, TORCH syndrome, thrombotic disorder eg Factor V Leiden mutations, teratogen exposure,
what are some prenatal causes of CP
o birth asphyxia, Instrumental delivery, birth trauma, placenta abruption, rupture of the uterus, prolonged/obstructed Labour and post maturity
what are some post-natal causes of CP
o Hyperbilirubinemia, nearly to sepsis, respiratory distress, early on to meningitis, intraventricular haemorrhage and head injury prior to 3 years (incl shaken baby syndrome)
what are the different subtypes of spastic CP
i. monoplegia single limb involvement
ii. hemiplegia ipsilateral upper and lower extremity
iii. diplegia both lower limbs
iv. Quadriplegia all 4 limbs + neck, phonation and swallowing problems
what are the different subtypes of dyskinetic CP
i. Dystonia involuntary, sustained contraction resulting and twisting an abnormal posture
ii. Chorea rapid, involuntary, jerky and fragmented motions, dec tone but can fluctuate
iii. Athetosis slower, constant changing, writhing or contorting movement
what are some neonatal clinical presetnation of CP
poor feeding, convulsions, prolonged primitive reflex, hypotonia
what are some early childhood clinical presetnation of CP
tone abnor (initially reduced, spasticity later), delayed motor development, delayed speech development, delay in cognitive development
movement disorder
what are some clinical features of quadriplegic spastic CP
all 4 limbs + • Seizures, microcephaly, mod/severe intellectual impairment
o Swallowing problems, GORD aspiration pneumonia
o Speech, visual problems
what are some clinical features of ataxic CP
problems with gait and trunk ataxia, poor balance, past pointing, terminal intention tremor, scanning speech, nystagmus, abnor eye movement and hypotonia
what are some clinical features of dyskinetic CP
Dystonia involuntary, sustained contraction resulting and twisting an abnormal posture
Chorea rapid, involuntary, jerky and fragmented motions, dec tone but can fluctuate
Athetosis slower, constant changing, writhing or contorting movement
what is the single most important test to do for CP
brain MRI –> periventricular leukomalacia
which score to use to assess the severity of CP
Gross Motor Function Classification System
Mx for CP?
MDT approach to aid speech, swallowing problems, walking problems and to provide equipment
o Anticonvulsants for epilepsy
o Spasticity: baclofen for spasm, Botox to reduce spasm
o Dsykineasia – carbidopa/levodopa, Botox to reduce spasm
o All – clonazepam to help with sleep
o Nutrition: Energy-rich supplements, reflux Rx. ?gastrostomy
what is the genetic make-up for Down’s Syndrome
• Trisomy 21 (47, XX/XY, +21)
aetiology and RF for Down’s syndrome
trisomy 21 - error in meiosis
inc maternal age
previous sibling who has Down’s Syndrome
Clinical Features of Down’s Syndrome
ROSEOLA
Round face Occiputal + nosal brdige Squint + sprinked spot in iris (Brushfield's spot) Epicanthic fold Open mouth + protruding tongue Low setting ears Alomand (oval) upward slanting eyes
other findings
- short fingers, single palmar crease, large sandal gap
o congenital heart defect (AVSD most common)
o congenital GI malformation (duodenal atresia double bubble X-ray)
o motor & cognitive delay development (learning disability, autisms spectrum disorder)
o early onset dementia
o secretory Otitis media (Squint)
o hypothyroidism
o atlantoaxial instability
o leukaemia more common
investigation for Down’s Snydrome
• chromosomal karyotype
• Echocardiogram to detect any congenital heart defect AVSD
• AXR duodenal atresia
• hearing test secretory OM mild to profound hearing loss
• TFT – hypothyroidism
• FBC – haemoglobin
• Antenatal screening
o combined test @ 10-14 weeks for nuchal translucency + blood test
o 15-20 wks for quadruple test
o confirmation amniocentesis, CVS
• developmental evaluation global delayed development
management of Down’s Syndrome
- Routine cardiac evaluation at birth.
- Routine audiological and thyroid tests in childhood, ophthalmological assessment if squint.
- Growth plotted on special Down’s growth charts.
- Family requires genetic counselling
- MDT approach – parental education, support, genetic counselling, IQ test
- Support to stay in mainstream school
- Medical Abx (recurrent resp infections), thyroxine (hypothyroidism)
- Surgical congenital heart defects, oesophageal/duodenal atresia
- Children and adults needs regular reviews feeding, bowel/bladder function, behavior, vision, hearing etc
what is strabismus
• misalignment of the eyes
what are the different types of strabismus
the direction of deviation - horizontal, vertical, torisonal
frequency of deviation - latent, intermittent, constant
variation with positiion of gaze - comitant, incomitant
clinical features of starbismus
- diplopia – binocular
- eye misalignment – can be manifest
- amblyopia (lazy eye) – where one eye fails to achieve full vision acuity if strabismus is not corrected in time
- visual confusion – phenomenon where images of 2 different objects are seen superimposed
- asthenopia – eye strain or headache
investigaton of strabismus
- cover test +ve
- Hirschberg test light symmetrically centred at each eye, no manifest strabismus
- Krimsky test follow the Hirschberg test to measure the angel of misalignment
mx for strabismus
- correct any refractive errors with glasses
- if amblyopia +/- diplopia occlusion of the good eye with a patch
- extraocular muscle surgery
- Botox can be used instead
- secondary treat underlying and follow the above management
what is an autism spectrum disease
Symptoms relate to impairment in social interaction, communication, and restricted interests, and repetitive behavior.
what is the diagnostic criteria for autism spectrum disease
DSM 4 and ICD -10
onset before age of 3
1) communication deficit
2) social interaction
3) restricted, repetitive behaviors + interests
clinical features of an autism spectrum disease
- Failure to develop social relationships.
- Very little communication, verbal and non-verbal, eye contact is avoided.
- Ritualistic, repetitive + obsessional behavior.
special characteristics of speech include:
o Pronoun reversal e.g. refers to self as ‘you’.
o Echolalia.
o Neologisms.
• Restricted & repetitive interests and behaviours
• Love of routines
• Sensory sensitivity
learning disabilities
investigation for ASD
- parental questionnaire + Hx
- Childhood autism Rating Scale (CARS)
- Childhood Autism Screening Test (CAST)
- fragile X and chromosome/microarray testing may show abnormality
- EEG to exclude other diagnosis
mx for ASD
• Children at severe end of spectrum have very difficult behaviour and can only attend special school.
• normal intelligence cope educationally in mainstream school but have problems socially.
• Input by both speech therapist and psychologist.
• Medical
o Treatment of medical conditions e.g. Fragile X, PKU, tuberous sclerosis, neurofibromatosis.
o Correction of hearing/visual defects.
o Genetic counselling.
o Medication (limited role): Antipsychotics to manage challenging behaviour , Anticonvulsants for epilepsy SSRI for mood disorder. Methylphenidate for children with hyperactivity
• Psychosocial
o Education. Speech Therapy. Family Support. Behavioural methods. Counselling. Respite.
o Applied Behaviour Analysis (also known as Early Intensive Behavioural Intervention)
o Picture Exchange Communication System
• Social
o social skills training for older/teenager
o CBT for OCD behaviour
• Strategies
o Use simple language and short sentences
o Support with alternative means of communication
o Use visual timetables to help make future predictable
o Unwritten social rules may need explaining
o Consider sensory problems
what is the definition of blindness?
if requires education by methods which cannot involve sight (e.g., Braille)
what is the definition of partial blindness?
if special education, but can use methods that depend on sight (large-print books).
aetiology of blindness
optic atrophy
congenital cataracts
choroidoretinal degeneration
50% cases - genetically determined, 1/3 - perinatal (retinopathy of prematurity)
clinical features of blindness
eyes - nystagmus or roving, purposeless eye movement
babies have an altered pattern of development - smiling at usual age, but less consistent, as develop, response to sound unaccompanied by turning toward source
motor skills - delayed, hard regard poor, development of fine pincer grip slow
early language development maybe normal - vocabulary + complex language maybe delayed
hearing deficits or severe learning difficulties.
presentation and diagnosis of blindness
neonatal period (cataracts, nystagmus or roving, purposeless eye movement)
parental concern about falling to elicit eye contact
examination by an ophthalmologist, young child, visual evoked response testing - electrophysiological method of evaluating response to light + special visual stimuli
management of blindness
• Early intervention to promote developmental progress.
• Family support, appropriate educational resources. Peripatetic teacher provided by local authority or RNIB to advise parents in preschool years.
• Child with partial sight may cope in mainstream school (optical aids, illumination, reading material in very large type).
• Braille remains essential method of reading if severe visual deficit, providing learning disabilities are not present.
• Mobility training. Travel outside of school, initially under supervision and then independently.
• Issues for family
o Parents taught to stimulate infant using non-visual means, (touch and speech). Home adaptation for safety.
• Issues for school
o Mainstream nursery often appropriate, if peripatetic teacher support. Child’s intellect and ability to make use of residual vision, wishes of family and long-term prognosis determine whether mainstream school, partially sighted unit or school for the blind.
what is the most common form of deafness
secretory otitis media
how common is deafness
4% of school children have hearing loss
most mild
2/1000 moderate, will need hearing aids
1/1000 severe, will need hearing air + special education
risk factors for deafness
severe prematurity Hx of meningitis Hx of recurrent OM significantly delayed or unclear speech Fhx of deafness parental suspicion of deafness children with CP children with cleft palate children with absent or deformed ears
aetiology of deafness
Genetics - can be part of a syndrome eg Turner, Klinefelter’s syndrome
Intrauterine - TORCH, HIV, maternal drug/toxins eg alcohol, cocaine, streptomycin
Perinatal - prematurity, low birth weight, birth asphyxia, severe hyperbilirubinemia and sepsis
postnatal - meningitis, encephalitis, head injury.
unknown aetiology - 20-30%
what is the most common cause of conductive hearing loss
glue ear
what are the ref flags for deafness
sudden onset
unilateral sensorinerual deafness
could indicate a brain problem
presentation for deafness
• Neurosensory deafness identified in newborn hearing screening.
• Parents concerned not responding to sound, or speech + language development delayed.
• If secretory OM, tympanic membranes look dull, retracted.
• Hearing deficit confirmed by audiological testing.
o If child cannot cooperate, brain stem evoked responses (BSER), electrophysiological measure used
clinical features for deafness
• Vary with severity of hearing deficit and presenting age.
o Congenital: delayed in talking.
o Later onset: behavioural difficulties.
• Assoc medical conditions e.g., cerebral palsy.
• Chronic secretory OM: fluctuating hearing loss, middle ear fluid may resolve but return with each URTI.
• Frequent in learning disabilities, visual deficits and neuro disorders
investigations for deafness
- auditory brainstem response
- otoacoustic emissions
- audiometry
- tympanometry
- RINNES and WEBERs TEST
- MRI or CT scan
- Karyotyping
treatment for conductive deafness
grommets +/- adenoidectomy
treatment for sensorineural deafness
sing language that is tough in conjunction with oral speech
lip reading
hearing aid - amplifies sounds
cochlear implant - in very profound severe deafness
what is the genetic makeup of fragile x syndrome
- fragile site at the end of one of the long arms of X chromosome
- 1 in 5000 males
what is the most common cause of learning disabilities amongst boys
Fragile X Syndrome
clinical features of fragile x syndrome
normal structure broad forehead elongated face large prominent ears strabismus highly arched palates hyperextensible joints hand calluses (from self-abuse) pectus exavatum - indentiation of chest mitral valve prolapse enlarged testicles hypotonia soft, fleshy skin flat feet seizures
learning difficulties (IQ <70) developmental delays 30% have autism
investigation for fragile X syndrome
diagnosis should be sought in any boy who has unexplained moderate or severe learning disabilities
antenatal testing - CVS or amniocentesis
mx for fragile X syndrome
SALT
special needs education and behavioural therapy
ADHD - dextroamfetamien and methylphenidate
aripiprazole for mood stabilisation and anticonvulsants for seizures
