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GROWTH AND DEVELOPMENT GROWTH AND DEVELOPMENT Dr.Khalid Hama salih , Pediatrics specialist M.B.Ch.; D. C.H F.I.B.M.S.ped

03 - Delayed Developmental Milestones

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developmental milestones an important aspect in paediatric medicine and important questions on board exams .. here we cover delayed milestones.

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GROWTH AND DEVELOPMENTGROWTH AND DEVELOPMENT

Dr.Khalid Hama salih,

Pediatrics specialist M.B.Ch.; D. C.H

F.I.B.M.S.ped

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IntroductionIntroduction:: An estimated 12-16% of children have a An estimated 12-16% of children have a

developmental and/or behavior disorderdevelopmental and/or behavior disorder Only 30% are identified before school Only 30% are identified before school

entranceentrance Those detected after school entrance miss out Those detected after school entrance miss out

on early intervention services proven to have on early intervention services proven to have long term health benefitslong term health benefits

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DelayDelay - implies slow acquisition of all skills - implies slow acquisition of all skills (global delay) or of one particular field or area (global delay) or of one particular field or area of skill (specific delay), particularly in relation of skill (specific delay), particularly in relation to developmental problems in the 0-5 years to developmental problems in the 0-5 years age group.age group.

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Development delayDevelopment delay the condition where a child does not reach one the condition where a child does not reach one

of the stages of development at the expected of the stages of development at the expected For example, if the normal range for learning For example, if the normal range for learning to walk is between 9 and 15 months, and a 20-to walk is between 9 and 15 months, and a 20-month-old child has still not begun walking, month-old child has still not begun walking, this would be considered a developmental this would be considered a developmental delay. delay.

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prenatalgeneticChromosome/DNA disorders, e.g. Down's

syndrome, fragile X syndrome

Cerebral dysgenesis, e.g. microcephaly, absent corpus callosum, hydrocephalus, neuronal migration disorder, vascular occlusion

metabolicHypothyroidism, phenylketonuria

teratopgenicAlcohol and drug abuse

Congenital infectionRubella, cytomegalovirus, toxoplasmosis

ncsTuberous sclerosis, neurofibromatosis

Perinatal 

Extreme prematurityIntraventricular haemorrhage/periventricular leucomalacia

Birth asphyxiaHypoxic-ischaemic encephalopathy

metabolicSymptomatic hypoglycaemia, hyperbilirubinaemia

Postnatal linfectionMeningitis, encephalitis

anoxiaSuffocation, near drowning, seizures

traumaHead injury - accidental or non-accidental

meabolicHypoglycaemia, inborn errors of metabolism

other 

 Unknown (about 25%)

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The The severityseverity can be categorised as: can be categorised as: mild mild moderate moderate severe severe profoundprofound

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Types of delayTypes of delay 1.Global developmental delay implies delay in 1.Global developmental delay implies delay in

acquisition of all skill fields (gross motor, acquisition of all skill fields (gross motor, vision and fine motor, hearing and vision and fine motor, hearing and speech/language, social/emotional and speech/language, social/emotional and behaviour). It usually becomes apparent in behaviour). It usually becomes apparent in thefirst 2 years of life.thefirst 2 years of life.

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. However, some children present later with, . However, some children present later with, for instance, delay in speech and language but for instance, delay in speech and language but review of their developmental history may review of their developmental history may reveal delayed gross and fine motor Global reveal delayed gross and fine motor Global developmental delay is likely to be associated developmental delay is likely to be associated with cognitive difficulties although these may with cognitive difficulties although these may only become apparent several years later. only become apparent several years later.

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2.Specific developmental delay is when one 2.Specific developmental delay is when one field of development or skill area is more field of development or skill area is more delayed than others or is developing in a delayed than others or is developing in a disordered waydisordered way

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Abnormal motor developmentAbnormal motor development

This may present as delay in acquisition of This may present as delay in acquisition of motor milestones, e.g. head control, rolling, motor milestones, e.g. head control, rolling, sitting, standing, walking or as problems with sitting, standing, walking or as problems with balance, an abnormal gait, asymmetry of hand balance, an abnormal gait, asymmetry of hand use, involuntary movements or rarely loss of use, involuntary movements or rarely loss of motor skills. Concern about motor motor skills. Concern about motor development usually presents between 6 development usually presents between 6 months and 2 years of age when acquisition of months and 2 years of age when acquisition of motor skills is occurring most rapidlymotor skills is occurring most rapidly

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Causes of abnormal motor Causes of abnormal motor development includedevelopment include::

cerebral palsy cerebral palsy congenital myopathy/primary muscle disease congenital myopathy/primary muscle disease spinal cord lesions, e.g. spina bifida spinal cord lesions, e.g. spina bifida global developmental delay as in many global developmental delay as in many

syndromes or of unidentified causesyndromes or of unidentified cause

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Fine motore &visionFine motore &vision:: Visual impairment may present in infancy with: loss Visual impairment may present in infancy with: loss

of red reflex from a cataract of red reflex from a cataract a white reflex in the pupil, which may be due to a white reflex in the pupil, which may be due to

retinoblastoma, cataract or retinopathy of prematurity retinoblastoma, cataract or retinopathy of prematurity (ROP). (ROP).

not smiling responsively by 6 weeks post-term not smiling responsively by 6 weeks post-term lack of eye contact with parents lack of eye contact with parents visual inattention, random eye movements visual inattention, random eye movements nystagmus ,squint nystagmus ,squint photophobia photophobia

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Hearing speech and languageHearing speech and language Abnormal speech and language development Abnormal speech and language development

A child may have a deficit in either receptive A child may have a deficit in either receptive or expressive speech and language, or both. or expressive speech and language, or both. The deficit may be a delay or a disorder. The deficit may be a delay or a disorder.

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Speech and language Speech and language delaydelay may be due may be due::

global developmental delay global developmental delay to hearing lossto hearing loss difficulty in speech production from an difficulty in speech production from an

anatomical deficit, e.g. cleft palate, or anatomical deficit, e.g. cleft palate, or oromotor incoordination, e.g. cerebral palsy oromotor incoordination, e.g. cerebral palsy

environmental deprivation/lack of opportunity environmental deprivation/lack of opportunity for social interaction for social interaction

normal variant/familial patternormal variant/familial patter

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Abnormal development of Abnormal development of social/communication skillssocial/communication skills

Children who fail to acquire normal social and Children who fail to acquire normal social and communication skills may have an autistic communication skills may have an autistic spectrum disorder. The prevalence of autistic spectrum disorder. The prevalence of autistic spectrum disorder is 3-6/1000 live births. It is spectrum disorder is 3-6/1000 live births. It is more common in boys. Presentation is usually more common in boys. Presentation is usually between 2 and 4 years of age when language between 2 and 4 years of age when language and social skills normally rapidly expand. The and social skills normally rapidly expand. The children present with a triad of difficulties and children present with a triad of difficulties and associated co-morbiditiesassociated co-morbidities

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Developmental Quotient (DQ)Developmental Quotient (DQ) Divide child’s developmental or best Divide child’s developmental or best

milestone age (DA) by child’s chronological milestone age (DA) by child’s chronological age (CA)age (CA)

DQ = DA/CA x 100DQ = DA/CA x 100 DQ of 100 = mean or average rateDQ of 100 = mean or average rate DQ < 70 is approx. 2 standard deviations DQ < 70 is approx. 2 standard deviations

below the meanbelow the mean

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Developmental QuotientDevelopmental Quotient DQ > 80 may be considered normalDQ > 80 may be considered normal DQ 70-80 borderlineDQ 70-80 borderline DQ < 70 is abnormalDQ < 70 is abnormal

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abnormal developmTable 4-2. abnormal developmTable 4-2. consider for entconsider for ent

Investigations or assessment to Chromosome*karyotypeCytogenetic

*Fragile X analysis

DNA FISH analysis, e.g. for chromosome 7, 15 ,

MetabolicoThyroid function tests, liver function tests, bone chemistry, urea and electrolytes, plasma a

Creatine kinase, blood lactate, VLCFA (very long chain fatty acids), ammonia, blood gases, white cell (lysosomal) enzymes, urine amino and organic acids, urine mucopolysaccharides (GAG) reducing substanc 

Maternal amino acids for raised phenylalanine

InfectionCongenital infection screen

ImagingCT and MRI brain scansSkeletal surveyCranial ultrasound in newborn

NeurophysiologyEEG (may be specific for seizures, some progressive neurological disorders)

Nerve conduction studies, EMG, VEP (visual evoked potentials), ERG (electroretinogram 

Histopathology/histochemistryNerve and muscle biopsy

otherr

*Hearing

*Vision

Clinical genetics

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managementmanagement Assistive technology (devices a child might Assistive technology (devices a child might

need) need) Audiology or hearing services Audiology or hearing services Counseling and training for a family Counseling and training for a family Educational programs Educational programs Medical services Medical services Nursing services Nutrition services Nursing services Nutrition services Occupational therapy Physical therapy Occupational therapy Physical therapy Psychological services Respite services Psychological services Respite services Speech/Language Speech/Language

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