Developmental delay

1. Pre-natal
   1. Genetic
      1. Neurocutaneous syndromes
         1. Neurofibromatosis
         2. tuberous sclerosis
      2. chromosome
         1. downs syndrome
         2. fragile X
   2. Vascular
      1. occlusions
      2. haemorrhage
   3. Metabolic
      1. hypothyroid
      2. Phenylketonuria
   4. teratogenic
      1. alcohol
      2. smoking
      3. medication
         1. antiepilpetics
         2. cytotoxics
      4. drug abuse
      5. pestacides / radiation
   5. Infectious
      1. rubella, CMV, toxoplasmosis, HIV
      2. varicella, malaria
2. perinatal
   1. extreme prematurity
      1. intraventicular haemorrhage / periventricular leucomalacia
   2. birth asphyxia
      1. hypoxic-ischaemic encephalopathy
   3. metabolic
      1. symptomatic hypoglycaemia or hyperbilirubinaemia
3. post-natal
   1. infection
      1. meningitis
      2. encephalitis
   2. anoxia
      1. suffocation
      2. near drowning
      3. seizures
   3. trauma
      1. head injury
   4. metabolic
      1. hypoglycaemia
      2. hypothyroid
      3. inborn errors of meatbolism
      4. hyper / hyponatraemia
      5. dehydration
   5. vascular
      1. stroke
   6. toxins
      1. lead, mercury, arsenic etc
4. nutrition
   1. Vit D, B12, folate, iron esp
   2. protein
   3. malabsorption?

1. Community
   1. resources
   2. support
2. Family
   1. parenting capacity
      1. basic care
      2. emotional warmth
      3. stimulation
      4. guidance and boundries
      5. stability
   2. history and functioning
3. housing
4. income
5. violence and abuse
6. education
7. health and access to healthcare

1. maternal mental health
   1. post natal depression

1. put any delays in context of other milestones
2. red flags
   1. general
      1. loss of previously acquired skill
      2. parental concern
      3. poor interaction with others
      4. abnormal tone
      5. difference in strength between left and right side
   2. 2 years
      1. has less than 50 words
      2. difficulty handling small objects
      3. unable to climb stairs
      4. no interest in feeding or dressing
   3. 18 months
      1. no clear words
      2. uninterested in playing with others
      3. not walking without support
      4. not able to hold crayon
      5. unable to stack two blocks

Anotações:

• chromosome karytopyping,  fragile X analysis, DNA FISH analysis

1. TFTs, LFTs, U+Es, bone chemistry, plasma amino acids
2. creatine kinase (DMD), lactate, VLCFA, ammonia, blood gas, white cell enzymes, urine amino and organic acids etc
3. maternal amino acids for raised phenylalanine

1. cranial US in neonate
2. CT / MRI brain
3. skeletal survey, bone age

1. EEG, VEP, Nerve conduction tc

1. central motor deficit
   1. cerebral palsy
      1. spastic CP

         Anotações:

         • damage to corticospinal tract
         1. hemiplegic

            Anotações:

            • tip toe walk
            • usually neonatal stroke
         2. quadriplegic

            Anotações:

            • sll four limbs, trunk, seizures, microcephaly, intellectual impairment
            • HIE usually cause
         3. diplegic

            Anotações:

            • legs much more than arms
            • usually preterm with periventricular brain damage
      2. clinical features
         1. abnormal limb + / or trunk posture and tone and delyed motor milestonse
         2. feeding difficulties
         3. abnormal gait
         4. asymmetric hand function before 12 months
         5. persisting primitive reflexes
      3. dyskinetic

         Anotações:

         • chorea, athetosis, dystonia
         • floppiness, poor trunk control, delayed motor development
         • HIE and hyperbillirubinaemia with rhesus haemolytic disease
      4. ataxic

         Anotações:

         • early trunk and limb hypotonia, poor balance, delayed motor development, inco-ordination, intention tremor, ataxic gait
         • usually genetic but may be acquired - symptoms depend on site and extent of damage
      5. mixed
2. congenital myopathy / primary muscle disease
   1. duchenne / beckers muscular dystrophy
3. spinal cord lesions
   1. spina bifida
4. Part of syndrome causing global developmental delay

1. hearing loss
   1. secretory otitis media
2. global developmental delay
3. motor problem e.g. CP
4. anatomical problem e.g. cleft palate
5. environmental deprivation / lack of opportunity for social interaction
6. normal variant / familial pattern
7. following meningoencephalitis or head injury
8. autistic spectrum disorders

1. developmental assessment
   1. other developmental problems?
   2. if less than 50 words at 3 years
2. hearing test
3. language development test

1. features
   1. impaired social interactions
   2. speech and language disorders
   3. imposition of routines with ritualistic and repetitive behavoir
   4. co-morbidities

      Anotações:

      • seizures, learning and attention difficulties

1. sensorineural
   1. genetic
   2. ante and perinatal
      1. congenital infection
      2. preterm
      3. HIE
      4. hyperbilirubinaemia
   3. postnatal
      1. head injury
      2. meningitis / encephalitis
      3. drugs e.g. aminoglycasides
      4. neurodegenerative disorders
2. conductive
   1. otitis media with effusion
   2. Eustachian tube dysfunction
      1. downs
      2. pierre robin sequence
      3. cleft palate
      4. mid facil hypoplasia
   3. wax
   4. URTI

1. loss of red reflex (cateract)
2. white reflex (ROP, cateract or retinoblastoma
3. not smiling by 6 weeks
4. visual inattention, lack of eye contact
5. nystagmus, squint, photophobia

1. genetic
   1. cateract
   2. albinism
   3. retinal dystrophy
   4. retinoblastoma
2. antenatal and perinatal
   1. congential infection
   2. ROP
   3. HIE
   4. cerebral abnormality / damage
   5. optic nerve hypoplasia
3. postnatal
   1. trauma
   2. infection
   3. juvenile idiopathic arthritis

1. check red reflex
2. concomitant

   Anotações:

   • non paralytic refractive error
3. paralytic - paralysis of motor nerves

   Anotações:

   • possible underlying SOL
4. cover test

1. hypermetropia

   Anotações:

   • long sight
2. myopia

   Anotações:

   • short sighted
3. astigmatism

   Anotações:

   • abnormal corneal curvature
4. amblyopia

   Anotações:

   • potentially permanent loss of visual acuity in the eye that has not received a clear image due to any interference with visual development