Genetic Testing in Neonates and Children - Screening for developmental delay and dysmorphism
- 1. Genetic Testing in Neonates and Children Dr. Prakash Patil PhD (Medicine, Japan) Senior Scientist, CRL KSHEMA, NITTE Deemed to be University Mangaluru - 575018 Screening for Developmental Delay & Dysmorphism
- 2. • Child Development refers to the process in which children grow through changes in skill development during predictable time periods that are the developmental milestones. • Developmental Delay is when a child does not reach the developmental milestones by the expected time period. Developmental Delay Developmental delay occurs in all areas of development 03-08-2020 Dr. Patil Prakash 2
- 3. “Developmental delay is a significant lag in a child’s physical, cognitive, behavioral, emotional or social development in comparison with norms" Developmental Delay Developmental delay refers to when a child’s development lags behind established normal ranges for his or her age 03-08-2020 Dr. Patil Prakash 3 Definition
- 4. • Genetic factors - born with a genetic or congenital or chromosomal abnormalities or chronic illness of mother during pregnancy • Environmental factors - exposure to harmful agents or toxins (e.g. lead, arsenic, drugs, etc.) either before or after birth • Other factors - poor maternal nutrition, infections that are passed from mother to baby during pregnancy (e.g. measles or HIV), inadequate prenatal care, neglectful parenting, etc. Risk Factors 03-08-2020 Dr. Patil Prakash 4
- 5. A child may have problems in grasping for objects, walking, thinking, or all of these at the same time Motor Skills Cognitive Skills Social Skills Communication Skills Delay Types 03-08-2020 Dr. Patil Prakash 5
- 6. • Gross motor skills refer to any type of action that require a child to move his or her muscles. Gross motor skills refer to larger movements, such as crawling, walking, or running • Fine motor skills refer to smaller actions, such as pointing or picking up items with their fingers • Warning Signs • Will have stiff arms/or legs • Will have a floppy or limp body posture • Uses one side of body more than the other or clumsy manner Delays in Motor Skills 03-08-2020 Dr. Patil Prakash 6
- 7. • Often referred to as intellectual abilities, such as verbal and non-verbal skills, attention, focus, hand-eye coordination and memory • Babies learn very gradually, it starts by being curious and they learn to identify basic colors, or identify animals in pictures • Warning Signs • Doesn’t pay attention or focuses on usual objects for long periods of time • Avoids or rarely makes eye contact with others or doesn’t play with toys • Inability to do simple tasks, such as grab a crayon or a spoon by 2 years of age • Never uses hand gestures such as pointing, waving, or imitating movements of adults Delays in Cognitive Skills 03-08-2020 Dr. Patil Prakash 7
- 8. • Childs ability to cooperate and collaborate with others • For example - smiling at people, expressing emotions, getting along or playing with others, or asking for help • Warning Signs • Doesn’t engage with people or not playing simple games with others • Pretend play with family or other children • Doesn’t make any attempts to communicate • Doesn’t get along with others or exhibit violent behaviors • Gets unusually frustrated when trying to do simple tasks Delays in Social Skills 03-08-2020 Dr. Patil Prakash 8
- 9. • Communication development refers to speech abilities and using spoken language to communicate • It includes issues related to hearing, seeing and speaking problems • Warning Signs • A baby who hasn’t started to babble or make sound around 3 months of age • Does not imitate sounds • Does not respond to sounds • Does not speak at all at one year of age Delays in Communication Skills 03-08-2020 Dr. Patil Prakash 9
- 10. • Developmental screening test is a quick and general measurement of skills • It’s purpose is to identify children who are in need of further evaluation • A screening test is meant to identify children who might have a problem • The popular screening tests are • Battelle Developmental Inventory Screening Test (BDINST) • Baley Infant Neurodevelopmental Screener (BINS) • Child Development Inventories (CDI) • Denver Developmental Screening Test (DDST) Screening of Developmental Delay 03-08-2020 Dr. Patil Prakash 10
- 11. • Battelle Developmental Inventory • Can be used to screen children aged 12-96 months, using a combination of direct assessment, observation and parental interview • Bayley Infant Neurodevelopmental Screener • designed for screening high risk infants aged 3-24 months, which covers three areas of development: cognitive, language, and motor • a clinical evaluation, developed to identify children with developmental delay who may require intervention services Screening Tests 03-08-2020 Dr. Patil Prakash 11
- 12. • Child Development Inventories • known as the Minnesota child development inventory, was created to provide a systematic, standardized method for parents to report on their children’s strengths, problems and present development • CDI measures a child’s development in eight areas namely social, self-help, gross motor, fine motor, expressive language, language comprehension, letters and numbers • It consists of 300+ item booklet and answer sheet for the parent to complete and profile sheet for recording the results Screening Tests 03-08-2020 Dr. Patil Prakash 12
- 13. • Denver Developmental Screening Test • DDST is a tool that combines direct observation and parental report • A tool that consists of 125 items, organized in to four developmental domains namely gross motor, fine motor, adaptive language, personal and social • To identify developmental delay in young children, up to age six Screening Tests 03-08-2020 Dr. Patil Prakash 13
- 14. • Earlier the diagnosis, easier to recommend treatment options for the child, such as speech therapy, physical therapy, nutritional therapy, occupational therapy, or a meeting with a hearing specialist, or with a developmental-behavioral pediatrician • Behavioral pediatricians can also coordinate efforts with the child’s family and school to best meet the needs of the child Treatment Options 03-08-2020 Dr. Patil Prakash 14
- 15. • In Greek, Dysmorphia means badness of form which refers to malformations in the shape and size of the body • An abnormality in morphologic development that occurs due to the abnormal embryogenesis or morphogenesis Dysmorphism Dysmorphism can be facial or structural 03-08-2020 Dr. Patil Prakash 15
- 16. • Chromosomal or genetic • Environmental causes are referred as teratogenic • Teratogens include dietary deficiencies, toxins or infections Etiology 03-08-2020 Dr. Patil Prakash 16
- 17. • Dysmorphic features are invariably present from birth, although some are not immediately apparent upon visual inspection • Based on their origin, they can be divided into groups • Malformations (abnormal development) • Disruptions (damage to previously normal tissue) • Deformations (damage caused by an outside physical force) • Dysplasia (abnormal growth or organization within a tissue) Dysmorphism types or groups 03-08-2020 Dr. Patil Prakash 17
- 18. • Hypertelorism • Wide spacing between the eyes • Hypotelorism • Narrow spacing between the eyes • Palpebral Fissure Length (PFL) • is measured from the endocanthion (en) (inner corner of the eye) to the exocanthion (ex) (outer corner of the eye) Common Dysmorphic Features 03-08-2020 Dr. Patil Prakash 18 Hypo Normal Hyper enex
- 19. • Eye skin or Epicanthal fold • An epicanthic fold or epicanthus is a skin fold of the upper eyelid that covers the inner corner (medial canthus) of the eye • an important diagnostic finding in Down syndrome Common Dysmorphic Features 03-08-2020 Dr. Patil Prakash 19
- 20. • Philtrum length • a vertical indentation in the middle area of the upper lip • medial cleft • is imperfectly formed in both unilateral and bilateral cleft lip Common Dysmorphic Features 03-08-2020 Dr. Patil Prakash 20
- 21. • Nose shape • The shape of a person’s nose - including the nasal tip, bridge, and nostrils • can be dictated by many factors, including ethnicity, age, past injuries, or birth defects Common Dysmorphic Features 03-08-2020 Dr. Patil Prakash 21
- 22. • Ultrasound • cranial Imaging of the fetal - study of facial anomalies • Magnetic Resonance Imaging (MRI) • a complementary tool in selected cases evaluation on facial dysmorphism in apert syndrome, hemifacial microsomia, otocephaly, and proboscis • Skeletal radiographs • abnormalities or disproportionates in the skeletal system Dysmorphism Investigations 03-08-2020 Dr. Patil Prakash 22
- 23. prakashpatil@nitte.edu.in 03-08-2020 Dr. Patil Prakash 23
- 24. Pre-conception Screening • To identify those at risk of conceiving a child with a birth defect since inherited disorders tend to cluster within families • Using family history to identify individuals at risk of having affected children • Carrier screening for common recessive disorders – β thalassemia and sickle cell anemia When to screen? β thalassaemia sickle cell anemia 03-08-2020 Dr. Patil Prakash 24
- 25. Peri-conception Screening • Offering genetic counseling to women 35 years or older • First trimester screening - a combination of two tests between 11th and 13th weeks When to screen? Nuchhal translucency test: with the help of ultrasound thickness of the area at the back of the neck (foetus) is measured. An increase in the thickness can be a sign of Down syndrome 03-08-2020 Dr. Patil Prakash 25
- 26. Peri-conception Screening First trimester blood test: - indicates certain birth defects low levels of pregnancy associated plasma protein A (PAPP-A) high levels of beta human chorionic gonadotropin (beta-hCG) hormone 03-08-2020 Dr. Patil Prakash 26 When to screen?
- 27. Peri-conception Screening Second trimester screening: are advised between 15th and 20th weeks of pregnancy • Triple screen test / quad screening: a maternal blood screening test that involves three specific substances: Alpha-fetoprotein test (AFP), human chorionic gonadotrophin (HCG), and estriol estimation. When a test for the hormone inhibin A is added, it's called a quad screening. 03-08-2020 Dr. Patil Prakash 27 When to screen?
- 28. Peri-conception Screening Additional Tests – not routinely advised but needed for accurate diagnosis of rare & high-risk disorders Amniocentesis: • amniotic fluid can be used to detect genetic disorders in the foetus • for Down syndrome, muscular dystrophy, sickle cell anaemia, thalassemia and cystic fibrosis Chorionic villus sampling (CVS): • cells from the chorionic villi (tissues from placenta) are examined • for chromosomal disorders such as Down syndromes 03-08-2020 Dr. Patil Prakash 28 When to screen?
- 29. Peri-conception Screening Additional Tests – not routinely advised but needed for accurate diagnosis of rare & high-risk disorders Cell-free fetal DNA: • Uses cell-free DNA from the plasma of pregnant women • for screening fetal aneuploidy in in women 35 years or older, or women with a history of trisomy- affected offspring, and women with positive first-trimester or second-trimester screening test results Cordocentesis: • a small sample of the fetal blood is withdrawn from the umbilical cord for detection of fetal chromosome abnormalities after 17 weeks of pregnancy. 03-08-2020 Dr. Patil Prakash 29 When to screen?
- 30. Thank You 03-08-2020 Dr. Patil Prakash 30