Paeds - Struggling at School Flashcards
What is Cerebral Palsy?
Cerebral palsy is a disorder of movement, posture & tone
It is due to a permanent non-progressive lesion of the motor pathways in the developing brain (occurs in utero or early infancy)
- affects 2 in 1000 birth
- M > W
- presents at 1-2 yrs
- most common motor diability in children
- does not get worse over time, but symptoms can change over a person’s lifetime
What causes Cerebral Palsy?
(are also risk factors for cerebral palsy)
Antenatal (80%) causes:
- prematurity
- cerebral malformation
-
congenital infection
- TORCHS-toxoplasmosis,other (varicella zoster, adenovirus, enterovirus),rubella,cytomegalovirus,herpes simplex virus,syphilis
- antepartum haemorrhage - causes flux in fetal circulation
- thrombophilias - can cause fetal clotting & placental vascular injury
- multiple gestation - twins = strongest risk factor for CP
Intrapartum (10%):
- birth asphyxia / trauma
Postnatal (10%):
- intraventricular haemorrhage
- periventricular luakomalacia - brain injury affecting pre-term infants, death of small areas of periventricular white matter –> creates small holes in the brain
- meningitis
- NAI
- head trauma
What are the possible manifestations / features of Cerebral Palsy?
Motor Features:
- UMN features e.g. weakness, hypertonia, brisk reflexes, clonus
- hypertonia (e.g. spasticity)
- delayed motor & fine motor milestones
- abnormal gait e.g. toe-walking (spastic hemi- / di-plegia), crouched gait (spastic diplegia)
- feeding difficulty
- fixed contractures (develop during periods of growth)
- early hand preference e.g. < 1-yr old (spastic hemiplegia)
Non-motor Features:
- learning difficulties (60%)
- sensory disturbance
- delay in speech development
- epilepsy (30%)
- squints (30%)
- hearing impairment (20%)
Most causes of cerebral palsy can be prevented.
True or False?
False
In most cases, we don’t know what caused a child to develop cerebral palsy
Early identification and treatment can make a difference to QoL
How many weeks of gestation defines a newborn as premature?
Premature = before 37-weeks gestation
What is the most accurate test of a foetus’ gestational age?
1st trimester ultrasound
What is the difference between cognitive impairment and a learning difficulty?
-
Cognitive impairment = generalised intellectual impairment
- Children have below-average IQ < 70
- Learning difficulty = difficulty with specific mental tasks but normal IQ eg. reading & writing (dyslexia), use of number (dyscalculia)
What are some examples of conditions causing cognitive impairment in children?
- Down’s syndrome
- Fetal alcohol syndrome
- Congenital hypothyroidism
- Cerebral palsy
- Autism (most cases)
- Prader-Willi syndrome
- Tuberous sclerosis
What is the definition of Global developmental delay?
Global developmental delay:
When there is significant delay in two or more developmental domains (e.g. gross motor, cognition, speech/language etc.)
- Significant = at least 2 SDs below average for age
- Global delay is the term used in children < 5 yrs
When taking a history of learning difficulties (e.g. cerebral palsy)
what topics might you want to cover?
-
Behaviour
- Parent - main concerns about child’s behaviour?
-
Learning / schooling / attendance
- Parent - what have the school reported regarding his progress?
-
Mobility
- Parent - any mobility issues? support in place?
-
Activities of daily living
- Child - likes and dislikes?
- Child - things you find easy / difficult?
-
Relationships with others
- Child - any friends? find it easy / hard to make friends?
How would you define Autism?
Where does Autism exist on the autism spectrum?
It is a lifelong (chronic), developmental disability that affects how a person communicates with and releates to other people + the world around them
Autism itself can be severe or mild, but it exists toward the more exteme end of ASD (autism spectrum disorders) with mild Asperger’s syndrome being at the less impactful end
Autism disorder is a social disabiity - what is the triad of autism in regard to this social disability?
- Social communication
- late to start talking or remain non-verabal
- difficulty initiating or sustaining convo
- unusual / repetitve language
- not responding to name
- difficulty understanding non-verbal comms
- Social interaction
- difficulty recognising emotion in self + others
- ↓ eye contact
- unaware of appropriate social behaviour (share toys, take turns talking)
- Social imagination: rigidity of thought, behaviour and play
- limited range of interests
- favour one specific toy (heavily)
- repetitive patterns of play / gestures
Autism is associated with ↑ occurence of several mental health conditions - name some.
- Anxiety
- Depression / low mood (may be worse in adolescence)
- OCD (up to 30% of persons with autism)
- Sleep disturbance
- Gender dysmorphia
What are some known risk factors for autism?
- Males (~4x more likely)
- 1st degree relatives with ASD (high heritability)
- ↑ parental age (father > 50 and mother > 40)
- Exposure to specific chemicals / medications or infections during pregnancy
Review other side of card for Autism history taking / questions.
Language + communication:
- Can they hold a convo?
- Voice: pitch? monotone? content of speech?
- Gestures when communicating?
- Meaningless repitition of speech?
Social + emotional interaction:
- Making + keeping friends?
- Understand emotions of others + themselves?
- How is their eye contact?
- Ignoring social cues / behaviour appropriate for age?
- Narrowed interests? Unable to talk about other topics?
Flexiblity / rigidity of thought?
- Repetitive play?
- How do they cope with change?
- Any obsessions? Routines? Rituals?
Behaviour:
- Temper? Meltdowns?
- Obsessions, fears, phobias?
Sensory features:
- Problems with loud noises? textures? water?
- Sensory seeking? Sensory avoiding?
Birth History:
- Antenantal - Hx of alcohol, drugs, smoking, illness?
- Perinatal - delivery problems, ↓ birth weight?
- Postnatal issues
Developmental Hx:
- Motor development progressing?
- Hearing, speech and language progression? - speech regression = RED FLAG
- Development of social interaction and play?
Family Hx:
- Learning disabilities?
- Epilepsy / fits?
- Alcohol / drug abuse?
- Domestic violence or care leavers?
What tools can be used to screen for autism spectrum disorder (ASD)?
-
CAST (childhood autism spectrum test)
- screen children 4-11yrs
- 39 yes/no questions
-
ADOS-2 (autism diagnostic observation schedule)
- for diagnosing and assessing autism
- series of tasks involving interaction between examiner + testee
- observations of behaviour converted into quantitative score
-
ADI-R (autism diagnostic interview-revised):
- structured interview with parents of individual (about the patient)
- examines; language / communication, social interaction, restricted, repetitive behaviours and interests
- min mental age of 24 months (2yrs)
-
DISCO (diagnostic interview for social and communication disorders):
- semi-structured interview with parent/care giver
- 300 questions
- children + adults of any age
What medical conditions is ASD associated with?
(progress test info)
- Fragile X syndrome - trinucleotide repeat disorder (CGG-repeat)
- Tuberous Sclerosis - autosomal dominant (neuro-cutaneous features)
- Rett’s syndrome - non genetic, new mutation MECP2 gene
- Congential rubella (especially exposure during 1st trimester)
How is autism managed?
Conservative:
-
Psychotherapy - both parents + patients:
- CBT
- Behaviour management programmes
- Applied behavioural analysis program - intense program (40hr a week for 3yrs) based on operant conditioning, imitation and reinforcement
-
Social - led by functional assessment:
- Carers
- Respite care
- Education of peers in school
- Learning support / special schools
Pharmacological:
-
2nd gen anti-psychotics = 1st line for children + adolescents with ASD
- Risperidone (only one liscenced in UK) - for aggressive, challenging behaviour in autistic children
- SSRIs - low dose, used for restricted repetitive behaviours (evidence limited)
- Melatonin - ↓ sleep latency (time taken to fall alseep)
What is Fragile X syndrome and what are it’s features?
Fragile X syndrome is a trinucleotide repeat disorder (CGG)
Features in males (males far more commonly affected):
- autism is more common
- learning difficulties
- large low set ears, long thin face, high arched palate
- macroorchidism (large testes)
- hypotonia
- mitral valve prolapse
Features in females (one fragile X and one normal X)
- range from normal to mild
What is Tuberous Sclerosis and what are its features?
Tuberous sclerosis is an autosomal dominant genetic condition, majority of features of neuro-cutaneous:
Cutaneous features:
- depigmented ‘ash-leaf’ spots which fluoresce under UV light
- Shagreen patches - rough skin over lumbar spine
- adenoma sebaceum - angiofibromas (red papules) on face in butterfly pattern
- subungal fibromata - connective tissue tumour under nails
- café-au-lait spots (less common than in neurofibromatosis)
Neuro features:
- developmental delay
- epilepsy
- intellectual impairment
Other features:
- retinal hamartomas - dense white areas on retina
- rhabdomyomas of heart - benign tumour
- polycystic kidneys
- lymphangioleiomyomatosis - multiple lung cysts
What is Rett’s Syndrome and what are its features?
Rett’s syndrome is a non genetic, new mutation MECP2 gene
Features:
- female (males die after birth)
- autism like features: language, repetitive movements
- slower growth
- walking impairment
- smaller head size
- Complications: seizures, scoliosis, sleep disorders
Is ADHD more common on males or females?
Males
(~4x more than females)
What are the 2 categories of features associated with ADHD?
Persistent
1) Inattention and/or
2) Hyperactivity / Impulsivity
What features fall into the diagnostic categores 1) inattention 2) hyperactivity/impuslivity for ADHD?
Inattention:
- Doesn’t follow through on instructions
- Reluctant to engage in mentally-intense tasks
- Distracted
- Can’t sustain tasks
- Poor organisation of tasks/activities
- Forgets daily activities
- Often loses things necessary for tasks/activities
- Doesn’t listen when spoken to
Hyperactivity / impulsivity:
- Unable to play quietly
- Talks excessively
- Doesn’t wait turn
- Spontaneously leave seat when expected to sit
- Often ‘on the go’
- Interruptive or intrusive to others
- Answer prematurely, before a question has been finished
- Run and climb in situations where it is not appropriate
What are the diagnostic criteria for ADHD?
- Features from inattention and/or hyperactivity/impulsivity lists:
- If < 16yrs then 6 features
- If > 17yrs then 5 features
- Symptoms cause significant functional impairment; socially, psychologically, educationally etc.
- Pervasive - symptoms occur in 2 or more settings; social, home, school etc.
- Onset < 7 yrs (DSM-V) < 6 yrs (ICD-10)
- Persists for > 6/12 months
How is ADHD managed?
Conservative:
- Watch & wait period - to observe if pts symptoms change / resolve (~ 10-weeks)
- Education on ADHD impact
- Parenting strategies e.g. family focused therapy - involvement from both parents
- Liason for school, college, uni
- Behaviour management strategies e.g. CBT
Pharmacological: - stimulants!!
-
5+ and young people:
- 1st line = methylphenidate
- Low starting dose + 6-week trial
- Titrate dose against behaviour + school work
- 2nd line = lisdexamfetamine
- If 6-week trial of methylphenidate at therapeutic dose did’t work
- Consider dexamfetamine IF responding to lisdexamfetamine but don’t tolerate long effect profile
- 1st line = methylphenidate
- Adults:
- 1st line = methylphenidate or lisdexamfetamine
- Try the other if the 1st didn’t work
- Consider dexamfetamine IF responding to lisdexamfetamine but don’t tolerate long effect profile
- 1st line = methylphenidate or lisdexamfetamine
How does Methylphenidate work?
What are it’s common side-effects?
Methylphenidate = noradrenaline-dopamine reuptake inhibitor (NDRI)
Side-Effects:
- Abdo pain
- Nausea
- Headache
- Insomnia
- Dyspepsia
- Hyperhydrosis
- Children - monitor weight + height every 6-months
What % of childhood ADHD pts experience persistent functional impairment into adulthood?
60-70%
Describe ADHD.
ADHD is known as a hyperkintetic disorder, it is chronic with symptoms beginning in early childhood & often persisting into adult life
- It is pervasive (many aspects of life e.g. education, home, social)
- Strong genetic-predisiposition
- Due to dysfunction of brain neural circuits that rely on dopamine and noradrenaline as neurotransmitters
- Often have co-existing psychiatric disorders e.g. ODD (oppositional defiant disorder), conduct disorder, substance abuse, depression and mania
What are some complications of ADHD?
- Substance misuse
- Accidental injury (4X more common)
- Personality disorders e.g. conduct disorder, ODD
- Mood disorders e.g. depression, mania
- Unemployment
- Low self-esteem
- Reduced educational achievement
- Increased rate of suicide
- Increased criminal activities
Is ADHD strongly or weakly genetically linked?
Strongly
76% concordance on twin studies
What measures can be taken / are protective factors for cerebral palsy?
- Management of pre-eclampsia (magnesium sulfate)
- Infection management (antibiotics)
- Preterm labour (corticosteroids –> increase surfactant production in fetus if given to mum + reduces inflammation)
What is the leading causative mechanism of cerebral palsy?
Periventricular leukomalacia
What is periventricular leukomalacia?
PVL is a brain injury affecting pre-term infants, which results in the death of small areas of periventricular white matter –> creates small holes in the brain
- Corticospinal tracts descend through periventricular region –> thus causing disturbance in motor function (i.e. cerebral palsy)
- Caused by:
- Ischaemia / hypoxia of periventricular region
- Infection / inflammation
What motor syndromes of cerebral palsy can you name, and their key features?
- Athethoid is also known as dyskinetic
What are the causes / influencing risk factors for ADHD?
- Other psychiatric conditions
- Genetic factors - siblings have 2-3X increased riks & 79% concordance in twins
- Developmental - low birth weight, maternal use of drugs / alcohol / tobacco
ADHD is NOT caused by psychological distress (but can worsen ADHD)
What do the following terms mean:
Hemiplegia
Diplegia
Quadriplegia
- Hemiplegia - unilateral arm and leg involvement
- Diplegia - symmetrical paralysis (may be of the legs, arms, face or combined thereof)
- Quadriplegia - all four limbs involved
What medications can be used to manage increased tone in children with cerebral palsy (and adults with increased tone)?
- Baclofen
- Diazepam
- Botulinum toxin
What does the drug Baclofen do?
Used to manage msucle spasticity
(such as that caused by spinal cord injury or MS)
- Uses:
- ↓ muscle spasticity
- hiccups / muscle spasms near end of life
- MoA: deriative of GABA –> acts on GABAB receptors in spinal cord and brainstem
- Side effects:
- Sedation - dose required for spasticity management causes this
- Dizziness
- Insomnia
- Nausea / vomiting
- Urinary retention / constipation
- If stopped suddenly –> seizures / rhabdomyolysis
What are Dystrophinopathies?
Dystrophinopathies are X-linked, progressive, hereditary degenerative disease of skeletal muscles caused by an absence or deficiency of dystrophin
- Dystrophin is part of a large membrane associated protein in muscle which connects the muscle membrane to actin
What is Duchenne muscular dystrophy?
Duchenne muscular dystrophy = a Dystrophinopathy
- X-linked recessive
- Frameshift mutation
- 1 in 4000 male infants
- High spontaneous new mutation rate in DMD - so may have no FHx
Features:
-
Progressive proximal muscle weakness
- from 5-yrs of age
- starts in legs –> progresses to other muscles
- falls
- wheelchair from early teens
- Examination:
- muscle wasting –> followed by fibrosis
- Calf pseudohypertrophy
- lordosis
- contractures - e.g. gastrocnemius & soleus contracture causing toe-walking
- Gower’s Sign - child uses arms to stand up from a squatted position (tripod position, then walks hands up body)
- Intellectual impairment (30%) e.g. speech delay
What condition should be considered in all males with delayed motor milestones?
Duchenne muscular dystrophy (DMD)
What is the prognosis of DMD?
25-30 yrs of life
Most can survive until at least early 20’s
some even longer, with good QoL
What are some complications of DMD?
Complications of DMD:
- Respiratory failure / pneumonia
- Heart:
- Cardiomyopathy
- Congestive cardiac failure
- Arrhythmias
- Scoliosis
- Osteoporosis
- Obesity
- Learning disability (~ 1/3rd)
How is DMD diagnosed?
- Clinical history + examination
-
Raised Creatinine phosphokinase (CK) - ~ 5 x times higher (can be 50-100 times higher)
- If normal –> excludes DMD
- DNA studies
What is Becker muscular dystrophy (BMD)?
Becker muscular dystrophy (BMD) = a Dystrophinopathy
- Similar symtpoms to DMD
-
Muscle weakness of later onset i.e. after age of 10-yrs
- Most remain ambulatory into their 20’s
- Intellectual impairment less common (compared to DMD)
- Prognosis better than DMD - life expectancy is late 40’s - normal
How is Duchenne muscular dystrophy managed?
Management is symptomic and supportive (no cure)
- Steroids for 10-days each month - shown to delay progression (maintian mobility for longer) e.g. delay loss of walking by ~ 2-yrs
- Occupational therapy
- Physiotherapy
- Patient & family education
What are the possible side-effects of steroids in children?
- GI irritation
- Increased appetite - with weight gain
- Hypertension
- Growth failure
- Bone thinning
- Behavioural deterioration - especially if pre-existing problems
Where in the skull cavity are brain tumours most likely to be in children?
Posterior fossa
