8. Developmental Delay Sem 5_2023.pdf

DEVELOPMENTAL DELAY Semester 5 MUCM PYT/280623 WHAT IS DEVELOPMENT ? Development is the process by which each child evolves from helpless infancy to independent adulthood PYT/280623 LEARNING OUTCOMES 1. Recognize the Red Flags of Development in a child 2. Know the causes 3. Types of developme...

DEVELOPMENTAL DELAY Semester 5 MUCM PYT/280623 WHAT IS DEVELOPMENT ? Development is the process by which each child evolves from helpless infancy to independent adulthood PYT/280623 LEARNING OUTCOMES 1. Recognize the Red Flags of Development in a child 2. Know the causes 3. Types of development delay 4. Recognize the significance of developmental delay in all 4 domains 5. Recognize the significance of developmental delay in 1 or 2 domains PYT/280623 PROCESS OF DEVELOPMENT ▪‘Normal’ development or age range for attainment of a milestone varies widely ▪Children will develop skills in roughly the same order, but this can occur at very different rates ▪The pattern of normal development is fairly constant ▪Believe parents and carers who are worried about their child’s development PYT/280623 CASE STUDY The parents of a 9-month-old boy have the following concerns : He is unable to sit without support He does not actively reach for objects He can coo but does not babble. How would you evaluate this boy? PYT/280623 PYT/280623 4 DOMAINS OF CHILD DEVELOPMENT Gross Motor Fine Motor and Vision Speech, Language and Hearing Social , Emotional and Behaviour PYT/280623 KEY DEVELOPMENT MILESTONES IN INFANTS OR YOUNG CHILD Gross Motor Fine Motor & Vision Speech, Language & Hearing Social Behaviour Sits steady by 9 m Transfers objects by 7 m Babbles by 6m Regards face, smiles by 6 wks 12m 18m 2yrs Walks by 12m Runs by 18m Walks up and down stairs Neat pincer grasp by 12m Kicks a ball Copies line Stacks 6 blocks Mana and Dada by 12m At least six words 2-words sentences Points to pictures Knows body parts Drinks from cup Removes dress Puts on clothes 3yrs Broad jump Balances well on each foot Names pictures 3-word sentences Names colors Uses spoon well 4yrs 5yrs Skips Runs on toes Stacks 9 blocks Copies O Copies + Draws person- 4 parts Copies X Draws person-8 parts Counts Ties shoelaces Dresses and undress alone Brushes teeth PYT/280623 MILESTONES LIMIT DEFINITION Range for reaching milestones : eg; a child will usually learn to walk between the ages of 10 and 14 months Median for each skill is age at which half a population of children acquire a skill. Limit is age at which a skill should have been achieved (2SD from mean) PYT/280623 PATTERNS OF DEVELOPMENT Normal 1. Slow but steady 2. Plateau 3. Regression Source: Illustrated Textbook of Paediatrics 6th Ed PYT/280623 SOME IMPORTANT DIFFERENCES TO BE AWARE - 1 Deviance occurs when A child develops milestones or skills outside of the typical acquisition sequence. Example: Cerebral palsy, in which the infant rolls over early because of increased extensor tone. PYT/280623 SOME IMPORTANT DIFFERENCES TO BE AWARE - 2 Regression is when : - A child loses previously acquired skills or milestones - Less common than other patterns, - Causes the greatest concern since it is often associated with serious neurological and inherited metabolic disorders. PYT/280623 SOME IMPORTANT DIFFERENCES TO BE AWARE - 3 Dissociations arise when A child has widely differing rates of development in different developmental domains. For example, children with autism often have typical gross motor development but significantly delayed language development, therefore language development has dissociated from gross motor development. PYT/280623 Red Flags or Alerts Gross Motor UNABLE to sit unsupported by 12 months UNABLE to walk by 18 months UNABLE to run by 2.5 years Fine Motor UNABLE to hold object placed in hand by 5 months UNABLE to reach for objects by 6 months Speech, Language and Hearing NO single words by 18 months NO 2-or3- word sentences by 30 months Social , Emotional and Behaviour NO responsive smile by 8 weeks NO good eye contact by 3 months PYT/280623 Other Red Flags or Alerts Loss of developmental skills at any age Persistently low muscle tone or floppiness Asymmetry of movements Hearing loss at any age Complex disabilities Head circumference above the 99.6th centile or below 0.4th centile Parental or professional concerns about vision An assessing clinician who thinks that development may be disordered PYT/280623 WHAT CAUSES DEVELOPMENTAL DELAY ? PYT/280623 WHAT CAUSES DEVELOPMENTAL DELAY ? A. Prenatal Period B. Perinatal Period C. Postnatal Period till 2 years od PYT/280623 CAUSES OF DEVELOPMENTAL DELAY A. Prenatal Genetic Chromosomal or DNA disorders eg Down syndrome , Fragile X syndrome Structural brain anomalies Cerebral dysgenesis – microcephaly , hydrocephalus, absent corpus callosum, neuronal migration disorder Cerebrovascular Stroke – haemorrhagic or ischaemic Metabolic Hypothyroidism , phenylketonuria Teratogenic Alcohol or Drugs eg sodium valproate , warfarin Congenital infections Rubella , cytomegalovirus , HIV, zika Neurocutaneous syndromes Tuberous sclerosis , Neurofibromatosis , Sturge-Weber PYT/280623 syndrome CAUSES OF DEVELOPMENTAL DELAY B. Perinatal Extreme prematurity Intra-ventricular haemorrhage Periventricular leukomalacia Perinatal asphyxia Hypoxic-ischaemic encephalopathy Metabolic Symptomatic hypoglycaemia Hyperbilirubinemia PYT/280623 CAUSES OF DEVELOPMENTAL DELAY C. Postnatal till 2 years of age Infection Meningitis , Encephalitis Anoxia Suffocation , Near drowning , Seizures Trauma Traumatic brain injury : Accidental or Non-Accidental Metabolic Hypoglycaemia , Inborn error of metabolism Cerebrovascular Stroke – haemorrhagic or ischaemic Nutritional Malnutrition , vitamin deficiency Others Chronic illness , Child maltreatment or Neglect No cause identified 25 % of cases PYT/280623 APPROACH TO A CHILD WITH DEVELOPMENTAL PROBLEMS AND SPECIAL NEEDS PYT/280623 APPROPRIATE HISTORY TAKING DETAILED HISTORY from conception to the present is required to assess developmental level. Knowing the appropriate MILESTONES Any signs of developmental regression should be regarded as a MEDICAL EMERGENCY and an urgent medical workup is indicated. An underlying etiology for developmental delay should be sought through attention to the following clues on history PYT/280623 PRENATAL HISTORY Maternal health during pregnancy Prenatal diagnoses made (eg. Down Syndrome) Infections (eg. TORCHeS) Exposures (eg. alcohol/drugs -Fetal Alcohol Syndrome) PYT/280623 PERINATAL & POSTNATAL HISTORY Birth – mode & condition at birth - APGAR score ? Birth asphyxia Gestation period : preterm Vs term Vs post-term Complications NICU care Infections / neonatal jaundice PYT/280623 PAST MEDICAL HISTORY AND MEDICATIONS Trauma / Incidents / Infections Ototoxic antibiotics eg. Gentamicin Frequent ear infections may lead to effusions affecting hearing PYT/280623 FAMILY HISTORY Consanguinity Relatives with developmental delay, learning difficulties, genetic abnormalities or syndromes A three-generation family history PYT/280623 DEVELOPMENTAL ASSESSMENT The timing of major milestones should be recorded as accurately as possible. Current developmental level Video or photo recordings of child on camera or mobile phones can help with past and present developmental profile PYT/280623 DENVER CHART PYT/280623 SOCIAL HISTORY Evidence of neglect or abuse which may have a negative influence on development. PYT/280623 SYSTEMATIC PHYSICAL EXAMINATION PYT/280623 PHYSICAL EXAMINATION Thorough physical examination is important – includes weight, length/height and head circumference Characteristic findings - Dysmorphic findings - Developmental assessment - Neurological examination - Hearing/Vision/Speech - Any organomegaly - Genitalia PYT/280623 GROWTH PARAMETERS Microcephaly: Rett’s Disorder Macrocephaly: Hydrocephalus Short stature: Turner syndrome Williams syndrome Obesity: Prader-Willi syndrome, Beckwith-Wiedemann PYT/280623 syndrome HEAD AND NECK Flat occiput: Down syndrome, Zellweger syndrome Prominent occiput: trisomy 18 Craniosynostosis: Crouzon syndrome, Pfeiffer syndrome Midface hypoplasia: Fetal Alcohol Syndrome (FAS), Down syndrome PYT/280623 HEAD AND NECK Cleft lip and palate: may either be isolated or part of a syndrome Micrognathia: Robin sequence Macroglossia: Beckwith-Wiedemann syndrome Abnormal hair whorls: Down syndrome Webbed neck: Turner syndrome PYT/280623 GENITOURINARY Macroorchidism: Fragile X syndrome Hypogonadism: Prader-Willi syndrome PYT/280623 EXTREMITIES Small hands: Prader-Willi syndrome Clinodactyly: Trisomies including Down syndrome Transverse palmar crease: Down syndrome PYT/280623 TYPES OF DEVELOPMENTAL DELAY PYT/280623 TYPES OF DELAY I GLOBAL DEVELOPMENTAL DELAY – incidence 1-3% of children ▪ Delay in 2 or more domains ▪ Gross motor / Fine Motor / Hearing Language / Social & Behaviour ▪ 0 – 5 years of age II SPECIFIC DISABILITY ▪ Affects only 1 skill area eg isolated speech delay or visual problems III SCHOOL GOING CHILDREN ▪ Learning / Intellectual disability ( ~ incidence 10% ) ▪ > 6 years and older PYT/280623 I. GLOBAL DEVELOPMENTAL DELAY Delay in acquisition of at least 2 or more skill fields Gross motor, vision and fine motor, hearing and speech , social emotional and behavior Apparent in first 2 years of life Likely to be associated with cognitive difficulties– which become apparent later PYT/280623 DIFFERENTIAL DIAGNOSIS Central motor deficit eg cerebral palsy Congenital myopathy, primary muscle disease Spinal cord lesions eg spina bifida Global developmental delay associated with several syndromes PYT/280623 CEREBRAL PALSY ❑ Early-onset non-progressive motor impairment with associated abnormalities in muscle tone ❑Types : quadriplegic paraplegic dystonic hypotonic choreo-athetoid PYT/280623 II. SPECIFIC DELAY : A. SPEECH AND LANGUAGE DELAY 5 – 10 % of children When parents are worried, they are correct 75% of the time Causes :  Hearing loss caused by middle ear infections/ ototoxic drugs / trauma / genetic disorders  Global Developmental Delay  Psychosocial Deprivation  Autism spectrum disorders  Selective mutism  Familial pattern  No cause found PYT/280623 WHEN WILL YOU SUSPECT? Red Flag Signs to Watch For: Infant: Not responding to sound 12-24 Months: Not using gestures 12 Months: Gestures over vocalization 18 Months: Difficulty imitating sounds and understanding verbal requests 2 Years: No words PYT/280623 Autism Spectrum Disorder : Trouble interacting, playing with, or relating to other children No eye contact Not pointing to objects to call attention to them Unusual or repetitive movements, such as hand flapping, spinning, or tapping; Repetitive / Odd playing with toys Delays in developmental milestones or Loss of milestones already achieved; Not exploring surroundings with curiosity or interest (a child seeming to be in his or her "own world"). PYT/280623 II. SPECIFIC DELAY B. VISION DELAYS Possible causes. Refractive errors, such as near sightedness and far sightedness Other eye problems include: Amblyopia (lazy eye), poor vision in one eye that may also appear to turn outward Infantile cataracts Retinoblastoma Retinopathy of prematurity Squint PYT/280623 RED FLAGS – VISION AND FINE MOTOR DELAYS ▪When not smiling responsively by 6 weeks post-term ▪Lack of eye contact with parents ▪Visual inattention, random eye movements ▪Nystagmus , Squint PYT/280623 WHAT’S NEXT AFTER DIAGNOSING DELAY PYT/280623 Establishing a cause can help family understand the condition including prognostic information Lessens parental blame Why is finding a cause important? Ameliorates or prevents co-morbidity by identifying factors likely to cause secondary disability that are potentially preventable Appropriate genetic counselling about recurrence risk Support Access ( Special Education and Support groups ) To address concerns about possible causes e.g. events during pregnancy or delivery Potential treatment for some conditions pyt/280623 LABORATORY TESTS AND IMAGING TESTS Recommended by the American Academic of Pediatrics, American Academy of Neurology and the American College of Medical Genetics •Cytogenetic studies •DNA Analysis for Fragile X syndrome •Microarray based chromosomal analysis • Neuroimaging with MRI • EEG • Metabolic screening • In global developmental delay standard chromosome analysis yields positive result in 3-4 % cases • In autism spectrum disorders an abnormal chromosome analysis in 7% of cases PYT/280623 MANAGEMENT 1. Treat Treatable causes 2. Early Intervention program 3. Multi-disciplinary development services - Education Programs - Medical services : Nursing services , Nutrition services - Other supportive services : Physical therapy, Occupational therapy, Speech and Language Therapy - Psychological services 4. Counselling and Training for parents / caregiver and family PYT/280623 TREATABLE CAUSES Hypothyroidism – L-thyroxine replacement therapy Some inborn errors: Galactosemia, Phenylketonuria etc – special diets Toxoplasma/syphilis: if detected early Hydrocephalus – surgical drainage Assistive technology aids – hearing / vision/ walking PYT/280623 PREVENTION Genetic counseling Childhood Vaccination - Rubella / HiB & pneumococcal vaccines Folic acid supplementation for all childbearing females Good antenatal & perinatal care. High risk approach Early recognition & management of infections, metabolic derangements, hyperbilirubinemia Neonatal screening for phenylketonuria , hypothyroidism Prenatal diagnosis of Down syndrome PYT/280623 SUMMARY 1. Developmental delay can present in perinatal period and throughout childhood 2. Regular review of child ‘s development for early diagnosis 3. May be Global (>2) or Single domain delay 4. Cerebral palsy is the most common cause of motor impairment in children. 5. Early detection of severe impairment of hearing or vision is important to minimize detrimental effects 6. Some may have complex medical needs 7. Ideally should be identified and investigated as early as possible so that treatment can be initiated early 8. May need multidisciplinary development services PYT/280623 REFERENCES: 1. Illustrated Textbook of Paediatrics Tom Lissauer, Will Carroll, Elsevier, 6th Edition, 2021. 2. Developmental assessment of children. Bellman M, Byrne O, Sege R. BMJ. 2013;346: e8687. doi: 10.1136/bmj.e8687 PYT/280623 …The End… pyt/280623