Approach to developmental delay

developemntal milestones, etiology, classification, approach through history, physical examination and investigations and management

1. Approach to Developmental Delay Omar Banat Bashar Mudallal

2. Objectives Introduction : definitions, Transient and Persistent developmental delays Developmental milestones : normal for age, warning signs. Etiology : causes of global developmental delay, high risk children Approach to a Child with Developmental Delay: History, Physical exm , Invistigations , Screening Resources

3. Introduction

4. What is child development? Child development refers to how a child becomes able to do more complex things as they get older .   Growth only refers to the child getting bigger in size.

5. What is developmental delay? Developmental Delay is when a child does not reach their developmental milestones at the expected times. It is an ongoing major or minor delay in the process of development . Delay can occur in one or many areas —for example, gross or fine motor, language, social, or thinking skills.

6. Developmental delay is not uncommon and occurs in 2-3 % of all children. ( ~ ) The term developmental delay is often used until the exact nature and cause of the delay is known. The significance of the delay is often only determined by observing the child’s development over time.

7. Transient developmental delay Some children have a transient delay in their development . For example, some extremely premature babies may show a delay in the area of sitting, crawling and walking but then progress on at a normal rate . Other causes of transient delay may be related to physical illness and prolonged hospitalization, immaturity, family stress or lack of opportunities to learn.

8. Persistent developmental delay If the delay in development persists it is usually related to problems in one or more of the following areas: understanding and learning moving communication hearing seeing. An assessment is often needed to determine what area or areas are affected . Disorders which cause persistent developmental delay are often termed developmental disabilities .

9. Developmental disability Developmental disability is estimated to occur in 5-10% of the population with enormous psychological, emotional, and economic impact on the affected individuals and society. Studies have shown that developmentally delayed children who are recognized at an early age receive more developmental optimization and greater gains than those who are identified later in life. Early recognition of children with developmental problems is therefore important. There are several disabilities in the classification of developmental delay:

10. Disability Description Gross motor delay Significant delay in fine or gross motor skills with no impairment in other developmental areas Developmental language disorders Significant delay in receptive and/or expressive language skills with no delay in other developmental domains Global developmental delay Significant delay in two or more developmental streams as measured by appropriate standardized screening tests. This term is reserved for children less than 5 years of age Cerebral palsy Early-onset non-progressive motor impairment with associated abnormalities in muscle tone Hearing sensory impairment A reduction in the ability to hear sound, ranging from slight to complete deafness

11. Disability Description Visual sensory impairment An optically or medically diagnosable condition in the eye(s) or visual system that affects the development and normal use of vision, ranging from slight to complete blindness Learning disabilities Significantly lowered individual achievement than predicted by intellectual ability as measured by standardized psycho-educational tests assessing reading, mathematics, or written expression Pervasive developmental delay (PPD) / Autism Impairments in social skills, communication skills and restrictive / repetitive patterns of behavior Pervasive developmental disorders not otherwise specified / Autism Spectrum Disorder Similar to PDD but not enough symptoms to warrant a PDD diagnosis

12. Developmental Milestones

13. What are developmental milestones? Developmental milestones are a set of functional skills or age-specific tasks that most children can do at a certain age range.  A pediatrician uses milestones to help check how a child is developing.  Although each milestone has an age level, the actual age when a normally developing child reaches that milestone can vary quite a bit.  Every child is unique ! CDC’s milestone checklists

14. In these categories… Gross motor :   using large groups of muscles to sit, stand, walk, run, etc., keeping balance, and changing positions. Fine motor :   using hands to be able to eat, draw, dress, play, write, and do many other things. Language :   speaking, using body language and gestures, communicating, and understanding what others say. Cognitive :  Thinking skills:  including learning, understanding, problem-solving, reasoning, and remembering. Social :  Interacting with others, having relationships with family, friends, and teachers, cooperating, and responding to the feelings of others.

15. 1 month

16. 1 month

17. 1 month

18. 3 months

19. 3 months

20. 3 months

21. 7 months

22. 7 months

23. 7 months

24. 7 months

25. 7 months

26. 12 months

27. 12 months

28. 12 months

29. 12 months

30. 12 months

31. 2 years

32. 2 years

33. 2 years

34. 2 years

35. 2 years

36. 3-4 years

37. 3-4 years

38. 3-4 years

39. 3-4 years

40. 3-4 years

41. 4-5 years

42. 4-5 years

43. 4-5 years

44. 4-5 years

45. 4-5 years

46. What are the Warning signs of a physical developmental delay ?

47. Newborn to 2 months

48. 3 to 6 months

49. 3 to 6 months

50. 7 to 9 months

51. 9 to 12 months

52. 13 to 24 months

53. 36 months

54. Etiology

55. Why is finding a cause important? Establishing a cause has many benefits for the child and family and improves overall quality of life : The family gains understanding of the condition , including prognostic information. Lessens parental blame . Ameliorates or prevents co-morbidity by identifying factors likely to cause secondary disability that are potentially preventable e.g. surveillance of other systems such as vision and hearing. Appropriate genetic counselling about recurrence risk for future children and the wider family. Accessing more support (e.g. within education services and specific syndrome support groups ). To address concerns about possible causes e.g . events during pregnancy or delivery. Potential treatment for a few conditions.

56. Causes of Global Developmental Delay Global developmental delay can be the presenting feature of a huge number of neurodevelopmental disorders (from learning disability to neuromuscular disorders). It is not possible to provide an exhaustive list . Careful evaluation and investigation can reveal a cause in 50-70% of cases. This leaves a large minority where the cause is not determined. It is still useful to investigate globally delayed development whatever the age of the child (occasionally older children with significant disability may not have been investigated adequately)

57. Environmental Factors that May Place a Child at Risk Living in families that are at lower socioeconomic levels ; Living in families with varied cultural backgrounds ; Living in families classified as dysfunctional ; Being born to teenage mothers or mothers more than forty years old; Growing up in homes where English is not the primary language spoken : (racism?) Being exposed prenatally to viruses, drugs, or alcohol ; Being born into families with other children who have developmental delays ; Being born to mothers who were malnourished during pregnancy ; Being born to mothers who have diabetes, thyroid disorders, syphilis, or other viral infections .

58. Our approach

59. An Approach to a Child with Developmental Delay A child’s development is a dynamic process , and assessment at any point in time is merely a snap shot of the bigger picture and should be interpreted in the context of the child’s history from conception to the present. While a child may appear to have normal development for the first twelve months of life, a deviation in the course of the child’s development in subsequent years is indicative of an underlying disability. It is important to keep this in mind as you assess a child, and to keep reassessing children in subsequent office visits . Developmental assessment involves three aspects: screening, surveillance, and definitive diagnostic assessment .

60. Developmental Assessment Developmental screening is identifying children who may need more comprehensive evaluation. It is a brief assessment procedure designed to identify children who should receive more intensive diagnosis or assessment. This is accomplished in the pediatrician’s office through thorough history taking +/- the use of screening tools such as the Denver or Bayley Scales of infant development. Developmental surveillance is a continuous process whereby the child is followed over time to pick up on subtle deficiencies in the child’s developmental trajectory. The components of developmental surveillance include eliciting and attending to parental concerns, obtaining a relevant developmental history, observing the child’s development in the office and referring for further assessment of development by other relevant professionals such as OT/PT for motor developmental concerns or hearing tests for concerns with language acquisition. Diagnostic assessment is performed on a child who has been identified as having a potential problem. This step requires extensive involvement of various team players such as a psychologist, educator, social worker, developmental pediatrician, geneticist, and/or other medical professionals.

61. History To perform a developmental assessment, a detailed history from conception to the present is required to assess developmental level. Knowing the appropriate milestones is key to this assessment. 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:

62. Prenatal History Complications Prenatal diagnoses made ( eg . Down Syndrome) Infections ( eg . TORCH) Exposures ( eg . Fetal Alcohol Syndrome)

63. Obstetrical History Complications APGAR scores Infections ( eg . Group B Strep) Seizures Hearing test performed Newborn screening performed

64. Past medical history and medications Ototoxic antibiotics eg . Gentamicin Frequent ear infections may lead to effusions affecting hearing

65. Behavior since birth Behavioral disturbances – aggression, self injury, defiance, inattention, anxiety, depression, sleep disturbances, stereotypic behaviors, poor social skills, hyperactivity, difficult temperaments

66. Family History Relatives with developmental delay, genetic abnormalities, syndromes Consanguinity

67. Social History Evidence of neglect or abuse which may have a negative influence on development. Primary languages. ESL children may have relative delay in English language acquisition. In children with a previously identified delay it is important to assess the resources already accessed to support the family such as personal tutors in the educational system, OT/PT for speech and language therapy,etc . The “Infant development program” is a regional resource supplying support to children until age 3. The “At home” program is a federal incentive to provide financial support and respite care to families with an affected child.

68. Screening Tools There are various screening instruments used for assessing developmental. The Denver II assesses gross motor, fine motor, adaptive and social skills. It is designed for children between the ages of 0 and 6. Similar tools are the “Ages and Stages” questionnaires and the Bayley infant development scales.

69. Physical Examination A thorough physical examination is important in the assessment of a developmentally delayed child. Characteristic findings on physical exam may provide clues as to the cause of the developmental delay. Some clinical signs and their corresponding clinical significance are listed below:

70. Growth Parameters Microcephaly: eg in Rett’s Disorder Macrocephaly: eg in hydrocephalus Short stature: Turner syndrome, Williams syndrome Obesity: Prader -Willi syndrome, Beckwith- Wiedemann syndrome

71. 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 Prominent nose and chin: Fragile X syndrome Round facies : Prader -Willi syndrome

72. Head and Neck Triangular facies : Turner syndrome Hypertelorism : Fetal hydantoin syndrome Hypotelorism : maternal PKU effect Brushfield spots: Down syndrome Prominent eyes: Beckwith- Wiedemann syndrome Lisch nodules: neurofibromatosis

73. Head and Neck Large pinna: Fragile X syndrome Malformed pinna: Treacher Collins syndrome, CHARGE association Broad nasal bridge: Fragile X syndrome Low nasal bridge: Down syndrome Long philtrum : FAS

74. 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

75. Genitourinary Macroorchidism : Fragile X syndrome Hypogonadism: Prader -Willi syndrome

76. Extremities Small hands: Prader -Willi syndrome Clinodactyly : trisomies including Down syndrome Transverse palmer crease: Down syndrome

77. Skin Nail hypoplasia or dysplasia: FAS Facial port wine hemangioma : Sturge -Weber syndrome Café au lait spots: Neurofibromatosis Ashleaf spots: Tuberous Sclerosis

78. Neurological Exam Cranial nerves Specific vision tests: red reflex, normal fundi, response to visual stimuli, field of vision Specific auditory tests: response to auditory stimuli Receptive or expressive language delay Abnormal speech ( eg . articulation) Persistently present Babinski response (older than 2 years of age)

79. Neurological Exam Hyper- or Hypotonia Sensory Motor strength Gait Deep tendon reflexes Primitive reflexes – Moro, Gallant Postural reflexes – propping response

80. Investigations: Genetics Karyotyping to assess for chromosomal abnormalities FISH analysis to assess for microdeletions Many of these investigations will be performed through specialist referral. Medical Genetics consultation should be done at this time.

81. Endocrinology TSH, free T4 Referral to endocrinology should be considered.

82. Metabolic Metabolic screening – glucose, electrolytes, serum lactate, ammonia, liver function tests, pyruvate, albumin, triglycerides, uric acid, serum quantitative amino acids, urine organic acids, acylcarnitines , creatine phosphokinase (if suspecting myopathy) Referral to metabolic diseases specialists should be considered.

83. Neurology EEG Head CT Referral to Neurologists if any of these tests are considered.

84. Management

85. After completion of a comprehensive medical and developmental evaluation of the child with developmental problems and the establishment of developmental diagnoses and identification of associated medical conditions, a plan for active treatment and comprehensive management can be initiated by the physician. Beginning with early identification of these problems, an affected child can receive educational and intervention services aimed at improvement of the child’s development through local early intervention and special education programs, as established in the United States through federal law under the Individuals with Disabilities Education Act.

86. Beginning as early as birth and continuing through age 3 years, any child with a known disability, significant delay, or condition with a high risk for disability ( eg , Down syndrome) is entitled to early intervention services that provide developmental therapies intended to improve performance in one of the developmental spheres. These can include traditional therapies, such as physical therapy, occupation therapy, and speech-language therapy, as well as broader services such as special instruction, counseling, and family training.

87. Many programs provide for parent training or home-based therapy to allow for generalization of skills learned. For children 3 years and older and continuing into the school-age years, the child with disabilities is entitled to an individualized, free, and appropriate education along with related therapy services.

88. Specific medical treatments targeted towards a child’s related medical conditions should also begin with diagnosis. For example, along with receiving physical therapy and other early intervention services, the child with cerebral palsy should be considered for medical treatment of tone abnormalities with oral agents, intramuscular botulinum toxin, or intrathecal baclofen. The child with behavior disorders accompanying a communication or intellectual disability is a candidate for psychopharmacologic treatments, such as stimulants for ADHD and risperidone for aggression.

89. Finally, the child with a developmental disability should have a medical home as a child with special health care needs. This allows the primary care provider a program of chronic condition management for regular health monitoring for chronological age and developmental monitoring in order to provide anticipatory guidance for developmental age. Specialized , condition-related office visits, written care plans, explicit co-management with medical specialists, appropriate patient education, and an effective system for monitoring and tracking should be put in place

90. Both the primary care physician and the specialist can refer the family to community-based support services, such as respite care, parent-to-parent programs, and advocacy organizations. Parent organizations such as Family Voices, and condition-specific organizations, such as Autism Speaks and The Ark, can provide further support, assistance, and information. Some children will qualify for additional benefits such as Supplemental Security Income, public insurance, waiver programs, and state programs for children with special health care needs.

91. Resources Nelson Textbook of Pediatrics, 19th Edition. http://www.med.umich.edu/yourchild/topics/devmile.htm http:// www.med.umich.edu/yourchild/topics/devdel.htm http:// www.healthychildren.org/English/ages-stages/baby/Pages/default.aspx http://www.babycenter.com/0_warning-signs-of-a-physical-developmental-delay_6720.bc http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2791071 / Center of Disease Control’s checklist of developmental milestones. The Royal Children's Hospital Melbourne; developmental delay: an information guide to parents. Developmental Delay – Causes and Investigation, Angharad V Walters http://learnpediatrics.com/body-systems/nervous-syste/basics-to-the-approach-of-developmental-delay / http://www.medmerits.com/index.php/article/developmental_delay_in_children_evaluation_and_management/P3

92. Thank You The End