Abnormal development Flashcards
Major milestones to remember
4-6wk - smiles socially, fixes face with eye
6m - sits unsupported
9m - Gets into sitting position
10m - Pincer grasp, waves bye bye
12m - walks unsupported, 2or 3words with meaning
12-18m - speaks 2-3 words
18m - Tower of 3-4 cubes, fees self wth spoon, points to things, Throws a ball without falling
24 m 2-3 words sentences, running, kicks a ball.
Developmental features with a child with ASD
12m child does not babble, point to objects or use gestures
18m no meaningful words
24m does not use 2 word phrases spontaneously
Loss of language or social skills at any age.
Red flags at any age for development abnormality
Not achieving indicated developmental milestones
Strong parent concerns
Signigicant loss of skills
Lack of response to sound or visual stimuli
Poor interaction with adult or other children
Difference between right and left sides of body in strength, movement or tone.
Loose and floppy movement (low tone) or stiff and tense (high tone)
Red flags of milestones in a 6 month old
S and E - Does not smile or squeal in response to people
C - Not starting to babble eg Adam, oogoo
FM and C - not reaching for and holding (grasping) toys
GM - Not rolling, not holding head and shoulders up when on tummy
Persistent primitive reflexes
Persistent squint
Hand preferences
Red flags of milestones of a 9 month old
S and E - not sharing enjoyment with other using eye contact or facial expression
C - no gestures eg pointing, showing, waving. Not using 2 part babble eg gaga,
FM and C - Unable to hold and/or release toys. Cannot move toy from one hand to another.
GM - Not sitting without support, not moving eg creeping or crawling motion, Does not take weight well on legs when held by an adult.
Red flags of milestones in a 12 month old
S and E - does not notice someone new, does not play early turn taking games eg peekaboo, rolling a ball.
C - No babbled phrases that sound like talking
FM and C - Majority of nutrition still liquid/purée, cannot chew solid food, unable to pick up small items using pincher grin.
GM - Not crawling or bottom shuffling, not pulling to stand, Not standing holding on to furniture.
Red flags of milestones in a 18 months
S and E - lacks interest in playing and interacting with others
C - No clear words, cannot understand short request eg where is the ball.
FM and C - Not holding or scribbling with a crayon, Does not attempt to tower blocks
GM - Not attempting to walk without support, not standing alone.
Persistent mouthing or drooling.
Red flags of milestones at age 2 yrs
S and E - when playing with toys tends to bang, drop, or throw them rather than use them for their purpose eg cuddle doll, build blocks.
C - does not have at least 50 words, not putting words together eg push car, Most of what is said is not easily understood.
FM and C - No interest in self care skills eg feeding dressing
Red flags of milestones 3yr old
S and E - no interest in pretend play or other children,Difficulities in noticing and understanding feelings in themselves and other eg happy, sad.
C - Speech difficult to understand, not using simple sentences eg big car go
FM and C - Difficulty helping with self care eg feeding dressing, Difficulty manipulating small objects eg threading beads.
GM - Not running well, Cannot walk up and down stairs, cannot kick or throw a ball, cannot jump with 2 feet together
Red flags of milestones at 4 yrs
S and E - Unwilling/unable to play cooperatively
C - speech difficult to understand, unable to follow directions with 2 steps
FM and C - Not toilet trained by day, unable to draw lines and circles
GM - Cannot pedal a tricycle, cannot catch throw or kick a ball, cannot balance well standing on one leg.
Red flags of milestones in a 5 yr old
S and E - Play is different than their friends
C - Difficulty telling a parent what is wrong, cannot answer questions in a simple conversation
FM and C - Concerns from teacher about school readiness, not independent with eating and dressing, Cannot draw wimple pictures eg stick person.
GM - Awkward when walking, running, climbing and using stairs, Ball skills are very different to their peers, unable to hop 5 times on each foot.
Red flag milestones at any age
Lack of or limited eye contact.
Causes of developmental delay
Idiopathic - autism, Various Dysmorphic syndromes
Chromosomal abnormalities - Down’s syndrome, Fragile X
Perinatal injury - Asphyxia, birth trauma
Prenatal injury - feral alcohol syndrome, intrauterine infection (TORCH)
Endocrine and metabolic defects - Congenital Hypothroidism, Phenylketonuria
Neurodegenerative disorders - Leucomalacia
Neurocutaneous syndrome - Sturge-Weber, neurofibromatosis, tuberous sclerosis
Post natal injury - Meningitis, non-accidentally injury, Neglect
Central nervous system malformation - Neural tube defects, hydrocephalus
Hx Q for development delay
Milestones
Loss of skills suggests a neurodegenerative condition
Check if concerns about vision and hearing
PmHx - Alcohol consumption. Medica problems and medication during preg. Enquire about prematurity and neonatal complications
FmHx - learning difficulties and consanguinity
Global development delay
Delay in all milestones
Generally indicated significant learning disability
Need to refer to a development assessment team.
Examination of a child with developmental delay
Developmental skills all four areas of development as well as vision and hearing. Also alertness, responsiveness, interest in surroundings, determination and concentration; these all have positive influences on a child’s attainment.
GI - Dysmorphic features, microcephaly (Fetal alcohol syndrome or intrauterine infections). Poor growth is common but may be due to Hypothroidism or non-organic failure to thrive - look for signs of neglect
Look for cafe au lait spots, Depigmentation patches and port wine stains which are indicative of neurocutaneous syndromes.
Hepatosplenomegaly suggests metabolic disorder
Neuro examination - abnormal tone, strength and coordination, deep tendon reflexes, clonus, cranial nerves and primitive reflexes and ocular abnormalities.
Ix for child with developmental delay
Chromosomal analysis TFT Urine screen for metabolic defect Hearing test Brain scan.
Common cause of severe learning disability are
Down’s syndrome
Fragile X
Cerebral palsy
Fetal alcohol syndrome
Common cause of learning disabilities Characteristic facial appearance - flatten bridge of nose, mid face hypoplasia, short palpebral fissures, long smooth philtrum Cardiac defects Hirsutism Poor growth Microcephaly
Congenital Hypothroidism
Rare Cretinism Course facial features Hypotonia Large tongue Umbilical hernia Constipation Prolonged jaundice Hoarse cry Tx with thyroxine
Inborn errors of metabolism
Single gene mutation
Autosomal recessive manner
Consanguinity is common
Presentation: developmental delay, neonatal seizures, hypoglycaemia, vomiting and coma.
Course features, microcephaly, failure to thrive, and Hepatosplenomegaly
Rare
Phenylketonuria is the commonest.and is screened for.
Neurodegenerative disorders
Characterised by progressive deterioration of neurological function
Causes
- heterogeneous and biochemical defects
- Chronic viral infections
- toxic substance
May have coarse features, fits and intellectual deterioration and microcephaly
Prognosis is bad as they continue to degenerate.
Neurocutaneous syndrome
Heterogeneous group of disorders
Characterised by neurological dysfunction and skin lesions
some have severe leaving disability and other are normal
Eg
Sturge Weber syndrome
Neurofibromatosis
Tuberous Sclerosis
Presenting features of Autistic spectrum disorder
More in males
1% of population
Lack of pretend play, pointing out objects to another person, social interest, joint attention, social play, Response to name when called.
Language development is delayed or disordered
May be unusual social use of language
Associated disorders
- intellectual disability
- Epilepsy
- other - ADHD, aggression and disruptive behaviour, anxiety disorders and depression, obsessive compulsive disorder, Tourette syndrome
Mx of ASD
Support and education
Early intervention programmes for behaviour, speech and special education
MDT - Paediatrician, psychiatrist, SP, Psychologist
Teaching social skills and friendship skills
Advice regarding educational options
Support groups
Respite care
DSM 5 ASD
A persistent deficits in social communication and social interaction across multiple environments
- 1 - deficits in social- emotional reciprocity or ranging
- 2 - deficits in non verbal communicative behaviours used for social interaction ranging eg abnormal eye contact, facial expression
- 3- deficits in developing, maintaining and understanding relationships, ranging eg making friends and sharing imagination play.
B - restricted, repetitive patterns of behaviour, interest or activities. At least 2 of the following
- 1 - stereotypes or repetitive eg lining up cars, echolalia
- 2 - Insistence on sameness, inflexibility
- 3 - Highly restricted, fixated interests that are abnormal in intensity or focus.
- 4 - Hyper or hypo reactivity to sensory input or unusual interest in sensory aspects of the environment.
C - present from early development
D - impairment
E - not explained by intellectual disability or global developmental delay.
Down’s syndrome
Commonest genetic anomaly
Significant learning disability with implications for long term independent living.
Facial features of upward sloping palpebral fissures, fold of skin over epicanthic of the eyes, protruding tongue, flat occipital,
single palmar creases, mild to moderate developmental delay.
Associated medical - GI problems eg duodenal atresia, cardiac anomalies eg atrioventricular canal defects), Otitis media, squint, Hypothroidism, Atlanta-axial vertebral instability and leukaemia.
Attention deficit hyperactivity disorder
Most common neurodevelopmental disorder in childhood
3-5%
Twice as common in boys then girl
Poor impulse control and limited sustained attention to task due to delays or deficit in executive brain function.
Poor emotional regulation
Commonly associated with - oppositional defiant disorder, anxiety disorder, learning disorders, autism spectrum disorder and tics.
Risk factors for ADHD
FmHx Prematurity Very low birth weight In-Utero exposure to neurotoxins eg alcohol Environmental deprivation in infancy.
DSM 5 criteria for ADHD
A - persistent pattern of inattention and or hyperactivity - impulsivity that interferes with functioning or development characterised by 1 and or 2
- 1 - Inattention: 6 of the following for at least 6 months. Fail of Close attention and careless mistakes in school work, difficulty sustaining focus, not listening when spoken to, failure to follow instructions or finish task, difficulty organising, avoid thing that require sustained mental effort, often losses thing that are necessary for a task, easily distracted, forgetful in daily activities.
- 2 - Hyperactivity and impulsivity: 6 or more in the last 6 months. Fidgets, doesn’t remain seated when it’s expected, climbs and runs when it’s inappropriate, unable to play quietly, is often on the go or driven, Talks excessively, blurts out answers before the question has been completed, difficulty waiting for their turn, often interrupts others.
B - Several inattentive or hyperactive symptoms were prior to 12yrs
C - several inattentive or hyperactive impulsive symptoms present in 2 or more settings
D - impair life
E - not due to other mental health condition
Principles of mx of Cerebral palsy
Therapy
- physiotherapist - to minimise the effects of spasticity and prevent contractures.
- OT - advise of equipment, activities to encourage child’s hand function.
- SP - to help feeding and language.
Orthopaedic problems -
Nutrition
- Paediatric management for the following issues
MDT with family put is essential
Normal immunisation
Good dental health
Assess and Address the associated impairment
- communication difficulties - electronic device
- Intellectual disability and specific learning problems - aid in school
- Manual limitation - OT etc
- Visual problems - visiual aids
- Hearing deficits
Assess and address health problems
- constipation, aspiration and sequent chronic lung disease, Growth. Gastro-oesophageal reflux (pain, bleeding, anaemia), under ended testes, epilepsy, osteopenia. Psychological and social factors.
Consequences of motor disorder
- Poor saliva control, incontinence, spasticity and dystonia. Orthopaedic problems.
MDT
- Physiotherapist, OT, SP, orthotists, social workers, nurse, psychologist and special education teachers
Tools to help assess child development
- The Goodenough ‘Draw a man’ test. - 4-10 years, one point for each item drawn. For each 4 points add one year to basal age of 3.
- Age and stages Questionaire - 4 - 60m. Looks at communication, GM, FM, problem solving,and personal adaptive skills
- Brigance screens - 0-90m -
- Parents evaluation of development status - 0-8yr - development and behavioural problems.
How to assess a child with delayed speech
Developmental history Parent age of speech and current abilities Hearing Birth etc... Examination Check other milestones are normal Look for behaviour suggestive of ASD Check ears Ix Audio gram DDX - ASD, deafness, global developmental delay
How to assess a child with delayed walking
Assess other developmental areas
Rule out motor abnormalities
Top 10 milestones
- Smiling
- Head control
- Rolling over front to back
- Sitting with support
- Sitting unsupported
- Stranger danger
- walking unsupported
- single words
- Throw and kick a ball
- two word phrases
- Smiling 6wk
- Head control 4m
- Rolling over front to back 6m
- Sitting with support 6m
- Sitting unsupported 8m
- Stranger danger 6-8m
- walking unsupported 12-15m
- single words 12m
- Throw and kick a ball 18m
- two word phrases 2yrs
Ix for ADHD
Vanderbilt from home and school
School report
Mx for ADHD
Behaviour modification - Educational strategies Medication - stimulants - SE - appetitive suppression, anxiety, tics, withdrawn behaviour or subdue personality. Increase Heart rate, increase BP, loss of weight and decrease weight. Positive parenting strategies School support Counselling
Types of cerebral palsy
Spastic cerebral palsy is the most common form where the injury is in the cerebral cortex or motor pathways.
Athetoid cerebral palsy are less common
Due to basal ganglia damage, Writhing movements, intelligence often normal, major physical impairment
Ataxic cerebral palsy are less common
Due to cerebral damage, poor coordination, ataxic gait.
Causes of cerebral palsy
Prenatal Cerebral malformations Congenital infection Metabolic defects Perinatal Complication of prematurity Intrapartum trauma Hypoxic-ischaemic insult Postnatal - injury incurred before 2 yr old Non-accidental injury Head trauma Meningitis/encephalitis Cardiopulmonary arrest
Presentation of Cerebral palsy
Follow up of “at risk” infants, such as those born prematurely
Delayed motor milestones, particularly learning to sit, stand and walk
Asymmetric movement patterns, for example, strong hand preference early in life
Abnormalities of muscle tone particularly spasticity or hypotonia
Management problems, for example, severe feeding difficulties and unexplained irritability. Many other conditions present with these features.
Signs in the neonatal period
difficulty sucking
irritability
convulsion
abnormal neuro exam
Different levels of involvement of cerebral palsy
1- Hemiplegia
arm often more involved than the leg,
delayed walking,
tiptoe gait, with arm in a dystonic posture when running
2 - Diplegia
Both legs involved with arms less affected or unaffected,
excessive hip adduction (hard to put on nappy),
scissoring legs,
Characteristic gait - feet in equinovarus and walking on tiptoe.
common in premature
3 - Total body impairment
most severe form,
all extremities involved,
high association with severe learning disabilities and fits,
swallowing difficulties and reflux common,
Flexion contractors of the knees and elbows often present by late childhood.
