Phase 1 teaching Jo Cleere Louise Messham The Peer Teaching Society is not liable for false or misleading information…

Phase 1 teaching

Jo CleereLouise Messham

Paeds 1

The Peer Teaching Society is not liable for false or misleading information…

• To gain a brief understanding of the broad themes and conditions within the following topics:1. Development2. Disability3. Neurology4. Genetics


Aims

• 4 areas of child development:1. Gross motor 2. Fine motor & vision3. Speech & language4. Social


Child development

• Gross motor 1. Head control2. Sitting 3. Crawling => cruising => walking


Child development

• Fine motor & vision1. Follow objects2. Grasp/grip3. Towers/drawing

• Speech & language1. Vocalises2. Words3. Sentences

• Social, emotional, behavioural 1. Follow objects2. Grasp/grip3. Towers/drawing

• Short video of young child• Ask students to observe child and estimate his age• The video includes the following elements:

– Crawling– Good eye contact and following toy moved in front of him– Making deliberate noises (‘shouts’) but no words– Clapping– Rudimentary peek-a-boo– Casting + ?object permanence– Pincer grip– Feeding himself


Video

• Short video of young child• Answer = 10 months


Video

Reflex:1. Stepping2. Palmar grasp3. Moro4. Rooting/suckling5. Asymmetric tonic neck/fencing6. Startle


Primitive reflexes x6Age when lost:• 0-6 weeks• 0-3 months• 0-4 months• 0-6 months• 1-4 months• Never!

• Key question to ask:– Global or specific?

• What might you see x3?– Growth problems– Dysmorphic features– Senses

• On examination x3:– Skin– CNS– CVS


Developmental delay

• Categories of causes x3:– Prenatal– Perinatal– Post natal

• Further categorisation?– Surgical sieve


Developmental delay

• Prenatal:– Genetic– Vascular– Metabolic– Teratogenic– Congenital

infection– Neurocutaneous

syndromes

• Perinatal:– Prematurity– Birth asphyxia– Metabolic

• Post natal:– Infection– Anoxia– Trauma– Metabolic– Vascular– Other

(unknown = 25%)


Developmental delay

• Core problems x3 +1…:1. Communication difficulties 2. Social interaction 3. Poor imagination/rigidity 4. Hypersensitivity

• Management x3:1. Education2. Support3. Visual behaviour support


ASD

• Core behaviours x3:1. Inattention2. Hyperactivity3. Impulsivity

• Other criteria x4:1. Present before 12 yrs 2. Dev. inappropriate3. ≥2 settings4. Impinges on function

• Assessment x3:

1. Interviews x32. Reports x23. Questionnaires x2

• Management x3:1. Education2. Support3. Methylphenidate (Ritalin)

AtomoxetineLisdexamfetamine


ADHD

A mother brings her 6-year-old son into surgery. He is not doing well at school and she worries he may be 'hyperactive'.

Which one of the following features is not consistent with a diagnosis of Attention Deficit Hyperactivity Disorder (ADHD)?

• Poor concentration• Impulsiveness• Uncontrolled activity• Repetitive behaviour• Extreme restlessness


Questions

Each one of the following statements regarding autism is correct, except:

• There is a global impairment of language and communication• The majority of children have normal or increased intelligence• Children may perform ritualistic behaviour• 75% of children are male• Usually develops before 3 years of age


Questions

Developmental milestones: speech and hearing


Questions

A. 2-3 monthsB. 3-4 monthsC. 5-6 monthsD. 7-8 monthsE. 12-15 months

F. 2 yearsG. 3 yearsH. 4 yearsI. 5 years

Select the average age at which a child attains the ability to perform the task:

1. Talk in short sentences (e.g. 3-5 words)

2. Vocabulary of 2-6 words

3. Responds to their own name

3 years

12-15 months

12-15 months


• A concerned mother brings her 11 month old baby boy to see you as she is concerned about his development. He is not crawling yet. You do a developmental examination and find that he is hypotonic and seems to have a definite hand preference


Cerebral Palsy• A neurodevelopmental condition which is a disorder of movement and

posture as a result of a non-progressive insult to the immature brain• Classification according to type of movement

– Spastic– Athetoid– Ataxic– Mixed

• Classification according to motor involvement:– Monoplegia– Hemiplegia– Diplegia– Quadraplegia


Cerebral Palsy• Clinical presentation:

• Abnormal limb/trunk posture and tone• Delayed motor milestones• Feeding difficulties: oromotor incoordination, slow feeding, gagging and vomiting• Abnormal gait once walking • Asymmetric hand function before 12 months of age

• Causes :• Antenatal:

• vascular occlusion, structural maldevelopment of the brain, congenital infections and genetic syndromes

• Perinatal:• hypoxic-ischaemic injury during delivery

• Postnatal causes:• head trauma, meningitis and encephalitis, hypoglycaemia, hyperbilirubinaemia and

hydrocephalus.

• Complications • muscle contractures and painful muscle spasms• gastrointestinal problems such as reflux and aspiration pneumonia due to recurrent aspiration• learning difficulties may occur in individuals with moderate to severe spastic quadriplegic cerebral

palsy


• You perform a baby check on a newborn baby. You notice pigmented spots on the iris and the baby has a protruding tongue. You hear a murmur on auscultation of the chest. There appears to be a gap between the great toe and second toe.


Trisomy 21 – Down syndrome

• Most common genetic cause of learning difficulties• Incidence (without antenatal trisomy) in live born infants ~1 in 650• May result from meiotic non-disjunction (most common,

related to maternal age), translocation (one parent may carry a balanced translocation) or mosaicism (rare)


Trisomy 21 – Down syndrome• Typical craniofacial appearance

– Round face and flat nasal bridge– Upslanted palpebral fissures– Epicanthic folds (fold of skin running across

inner edge of palpebral fissure)– Brushfield spots in iris (pigmented spots)– Small mouth and protruding tongue– Small ears– Flat occiput and third fontanelle

• Other anomalies– Short neck– Single palmar creases, incurved fifth finger

and wide ‘sandal’ gap between toes– Hypotonia– Congenital heart defects (40%)– Duodenal atresia– Hirshsprung’s disease

• Later medical problems– Delayed motor milestones– Moderate to severe learning difficulties– Small stature– Increased susceptibility to infections– Hearing impairment from secretory otitis media– Visual impairment from cataracts, squints, myopia– Increased risk of leukaemia and solid tumours– Risk of atlanto-axial instability – Increased risk of hypothyroidism and coeliac

disease– Epilepsy– Alzheimer's disease


• You perform a baby check on a newborn baby. You notice the chin and mouth look small. The baby has rocker-bottom feet


Trisomy 18 – Edwards syndrome

• Eighteen (trisomy)• Digit overlapping flexion• Wide head• Absent intellect • Rocker-bottom feet• Diseased heart and renal malformation• Small chin and mouth/short sternum


A baby is born with a cleft lip, extra digits and small eyes?


Trisomy 13 – Patau’s syndrome

• PERC’• Polydactyl• Eye defects and small eyes (microphthalmia)• Renal malformations • Cleft lip and palate/ Cardiac malformations


• A 15 year old girl is brought to see her GP by her mother as she has not yet started to menstruate. On examination she has a short stature, low set ears and a webbed neck. She does not have any breast development but she does have pubic hair.


Turner’s syndrome – 45X

‘CLOWNS’• Cardiac abnormalities: coarctation of the aorta• Lymphoedema/low set ears/low hair line/low thyroid (hypothyroidism) • Ovaries not developed/amenorrheoa/ infertility• Webbed neck/wide carrying angle• Short stature/horseshoe kidneys


• A 15 year old boy has started developing breast tissue. He is tall and appears to have a female fat distribution. Pubertal development appears normal.


Kleinfelter’s syndrome – 47XXY

• ‘SIGH’• Stature: tall• Infertility• Gynaecomastia• Hypogonadism

• Usually normal intellect and pubertal development may appear normal


Mendelian inheritance

• Transmission of inherited traits or diseases caused by variation in a single gene or characteristic pattern


Autosomal dominant inheritance

• Affected individual carries the abnormal gene on one of a pair of chromosomes

• 1 in 2 chance of inheriting abnormal gene from affected parent

• Variations in expression and penetrance

• Often affect structural proteins


Autosomal dominant inheritance

• Achondroplasia• Marfan syndrome• Huntington disease• Neurofibromatosis• Osteogenesis imperfecta


Autosomal recessive inheritance

• Affected individuals are homozygous for the abnormal gene

• Two carrier parents have a 1 in 4 risk of having an affected child

• Risk of AR conditions increased by consanguinity

• Often affect metabolic pathways


Autosomal recessive inheritance

• Cystic fibrosis• Congenital adrenal hyperplasia• Hurler syndrome• Phenylketonuria• Sickle cell disease• Thalassaemia


X-linked recessive inheritance• Males are affected• Females can be carriers (usually

healthy or mild disease)• If father is affected, what is the

chance:– His sons are affected? 0%– His daughters are affected?

0%• 50% unaffected carriers,

50% unaffected


X-linked recessive inheritance

• Red-green colour blindness• Duchenne and Becker muscular dystrophy• Fragile X syndrome• Glucose-6-phosphate dehydrogenase

deficiency• Haemophilia A and B• Hunters syndrome (mucopolysaccharidosis II)


Illustration of pedigrees






Imprinting and uniparental disomy• Imprinting: the expression of some genes is influenced by the sex of the parent

that transmitted it

• Chromosome 15q11-13

• Prada Willi syndrome– Failure to inherit a functioning paternal copy– Hypotonia, developmental delay, hyperphagia, obesity

• Angelman syndrome– Failure to inherit a functioning maternal copy– Severe cognitive impairment, characteristic facial appearance, ataxia, epilepsy


Congenital infections which may lead to disability

TOR C H


Congenital infections which may lead to disability

T – ToxoplasmosisO – Other (Syphilis, VZV, parvovirus)R - RubellaC - CMVH - HSV


Thank you• www.passmedicine.com

Documents

Phase 1 teaching Jo Cleere Louise Messham The Peer Teaching Society is not liable for false or misleading information…