Jean-François Lemay MD CCFP CPSQ FRCPC Professor, Developmental Pediatrician

1. Jean-François Lemay MD CCFP CPSQ FRCPC Professor, Developmental Pediatrician Department of Pediatrics, Alberta Children’s Hospital University of Calgary Faculty of Medicine, Calgary , AB

2. Disclosure Statement Dr Lemay has documented that he has nothing to disclose.

3. Objectives: June 14th 2012 • The participant will learn: • The general principles of development • How to recognize early patterns that are abnormal and that may indicate a possible developmental cognitive (intellectual dis-ability) and language problem • The most important points that I want you to remember

4. Section I • General Principles about Developmental Issues

5. Important Message • Infant development occurs in an orderly and predictable manner that is determined intrinsically • Developmental Disabilities develop just as normal development does

6. Developmental Spheres

10. Section II. When to Worry About Cognitive Skills and Communication in Childhood

11. Case presentation 4-year-old girl would speak at home and not at all in preschool Seems to be behind developmentally according to the teacher family history of learning and speech problems history of normal birth and delivery no CNS insult/usually in good health P/E – not dysmorphic – would/did not speak – a little anxious, appears to be socially immature – neurological exam showing low tone and decreased strength What would you do?

12. Mother of the 2 kids WAIS-IVComposite Scores Summary

13. Our patient WPPSI-III Composite Scores Summary

14. 8-yr-old sister of the patient WISC-IV Composite Scores Summary

15. The ABAS-II adaptive score showed borderline adaptive skills, and both girls had a negative ADOS. • Dysmorphology assessment demonstrated a high bridge of the nose, long/flat philtrum and an aspect of fusion of the 2nd to 4th metatarsals. Both girls also had multiple dental caries.

16. Terminology • Before the age of 4-5 : Global Developmental Delay (GDD) or delay in a specific domain(s) • After the age of 4-5 : Intellectual Disability (ID) or specific delay in one or more domain(s)

17. Terminology • Global Developmental Delay: child is functioning at a level 2 SD below the child’s expected achievement for age in 2 or more of developmental categories • Isolated Developmental delay exists when a child is functioning or below in one single area. • Atypical developmental refers to any of the following: • Divergence from the normal sequence of development (for instance skipping) • Loss of skills previously achieved • Presence of atypical behaviours such as echolalia

18. Intellectual Disability: not MR! • New term: formally called mental retardation • American Association on Mental Retardation has been renamed the American Association on Intellectual and Developmental Disabilities

19. Definition Intellectual Disability • Valid assessment • Intelligence quotient: significant limitation in intellectual functioning (the IQ score is more than 2 SD below the mean for the IQ used) • Adaptive skills • Significant limitation in adaptive behavior • Deficits in 2 or more of the following applicable adaptive behavioral skill areas: • Communication, home living, community use, health and safety, leisure, social skills, self-direction, functional academics, and work

20. Degrees of Severity of MR • DSM IV • 317 Mild IQ level 50-55 to +/- 70 (70-75) • 318.0 Moderate IQ level 35-40 to 50-55 • 318.1 Severe IQ level 20-25 to 35-40 • 318.2 Profound IQ level below 20 or 25

21. IQ/Cognitive skills (under +/- 6-7yr) • Bayley (1-42 months): social-emotional and adaptive behavior, receptive + expressive language, Fine and Gross motor + cognitive. • WPPSI-III (2-6 to 7-3yrs of age) Standardized assessment of cognitive ability. Provides a Full Scale IQ and Verbal, Performance, Processing Speed and General Language cores. • Mullen (0-68 months). Individualized assessment of cognitive ability. % independent scales including Expressive Language, Receptive Language, Visual Reception, Fine Motor and Gross Motor scales. • Child Development Inventory (not really an IQ test) – provides an overall estimate of developmental functioning through parent report from ages 0-6 years.

22. IQ/Cognitive skills: over 6 yr • WISC-IV (6-16 years): Standardized assessment of cognitive ability. Provides Full Scale IQ; Verbal Comprehension, Perceptual Reasoning, Working Memory, and Processing Speed index scores • WAIS-III (16 to 74-11yrs). Standardized assessment of cognitive ability. Provides Full Scale IQ; Verbal and Performance IQs; Verbal Comprehension, Perceptual Organization, Working Memory, and Processing Speed index scores

23. Adaptive Behaviour skills • Vineland Adaptive Behaviour Scale (Vineland II): • lifespan adaptive behaviour assessment tool. • Standardized interview or questionnaire format for caregivers and teachers. • Provides an Adaptive Behaviour Composite score and three domain scores (Communication, Daily Living skills, Socialization) • Adaptive Behaviour Assessment System – II (ABAS-II): • designed to measure the adaptive behaviour skills across the lifespan including Communication, Functional Academics, Self-Direction, Leisure, Social, Community Use, School Living, Health & Safety, Self-Care and Work. • Yields 3 composite scores (Conceptual, Social and Practical) and an overall adaptive functioning score, General Adaptive Functioning (GAC)

25. Intellectual Disability • One of the most prevalent of the developmental disabilities • There is a sense of urgency to determine the causative factor or factors • Occurring in approximately 1% school-aged children

26. Key components in Conveying a Diagnosis of Intellectual Disability Attitude:With the child present, acknowledge that he/she is valued and the parents are respected. Location: Private room with no interruptions. Personnel: Experienced staff should convey the news. Language: Interpreter should be present if English is not the first language. Content: Present information in a direct, sympathetic, and understandable manner. Discuss immediate and future plans. (A follow-up consultation is advised). Questions: Allow time for questions. Clarify any unanswered questions promptly. Support: Provide verbal and written information about support / interest groups. (adapted from Diggens and Lennox, 199958)

27. Origins ID

28. Classification of Etiology of 178 children with ID (adapted from Stromme and Hagberg, 2003 13)

29. Epidemiology of Intellectual Disability • Prevalence Rates • Roeleveld (1997) • Mild 3.2-79.3/1000 • Severe 2.8-7.3/1000 (review of 33 studies after 1963 Western industrialized countries) • Leonard (2002) • Mild 10.6/1000 • Severe 1.4/1000 • Male to female ratio 1.6: 1(Croen 2002) • supporting the notion that an X-linked pattern of inheritance underlies a significant proportion of cases

30. 2011: The prevalence of ID varies depending on study design and diagnostic criteria. In the United States, ID is generally estimated to occur in approximately 1 to 1.5% of all children. The prevalence of ID is higher in boys and the majority of those with intellectual disabilities have mild ID. In contrast, the prevalence of ID in adults is significantly lower than in children.

31. 2011: A British study that followed a single cohort from childhood into adulthood found that the prevalence of ID reached a plateau at 1.4% among individuals aged 10 to 15 years, and then sharply dropped to 0.6% at age 17 years.

32. Etiologic Considerations • Diverse and include many different influences • malnutrition is probably the most common cause of Mild MR/ID world wide (Churazzi 2000) • probably in conjunction with socio-cultural deprivation and other problems related to poverty • in developed countries, the underlying causes of ID are various and heterogeneous (unknown up to 66%)

33. ID is associated with many genetic syndromes

34. Syndromes... • Fragile X • most common form inherited MR (Ellaway 2001) • prevalence: 1:4000 males (1-6% of MR) • folate-sensitive fragile sites • Females: carry FMR1 premutation may present with LD, emotional problems, etc. • dysmorphism appears usually in adolescence • Mild to Severe MR range

35. Syndromes associated with MR • Williams Syndrome • frequency 1:10,000 • deletion of 7q11.23 • ‘elfin-like face’ • loquacious, overfriendly, ADHD, etc.. • Mild MR/low-average intelligence • Velocardiofacial syndrome • prevalence: 1:5,000 • typical dysmorphism • Mild MR is less frequent

36. Syndromes associated with MR • Rett syndrome • progressive X-linked dominant encephalopathy • progressive course with identifiable stages • severe impairment in language development and psychomotor development are found • Prader-Willi • frequency 1:16000-25000 • most common syndromal cause of human obesity • average IQ : +/- 70

37. Syndromes associated with MR • Angelman syndrome • chromosome 15q11-q13 • true incidence may be underestimated • unusual facies • characteristic behavioral pattern • Isocentric chromosome 15 • most frequently reported cytogenic finding in individual with autistic disorder

38. Syndromes associated with MR • FASD • most common cause of MR among children in the USA (Abel 1995) • IQs from well within the normal range to the severely mentally retarded range-on average • individuals with the full syndrome have mild MR with IQ scores in the 60s (Schaefer 1992)

39. Comprehensive assessment of patients with ID (Part I) • Complete medical, developmental and psychosocial history including a three generation pedigree + pre-, peri-, and post-natal history • Comprehensive Physical Examination (specifically looking for the presence of physical anomalies) + complete neurologic examination + growth measurements

40. Part II : Investigations • No universal approach to the etiologic work up after the completion of Part I • Karyotype (detects most chromosomal rearrangements) • FISH: Fluorescent ion situ hybridization: can detect tiny chromosomal changes particularly microdeletions (e.g., Williams syndrome) • Molecular testing DNA analysis: testing of a specific gene to detect changes or mutations (e.g., Fragile X) • Neuro Imaging: useful but ... do it when you have dysmorphic facial features, significant microcephaly, hypotonia, neurodegenerative process and an asymmetric neurological exam or seizures (r/o CNS dysgenesis) • Routine Metabolic Screening should be abandoned; it is rare! • Micro-arrays

41. Other assessments • Neuropsychological evaluation with IQ testing • Psycho-interview to include personality style • Evaluation of language production and comprehension • Education evaluation including achievement tests

43. Intellectual disability: take home messages • Early identification • Determination of an underlying etiology (if possible): we have many underlying causes of intellectual disability including genetic causes, environmental factors, and prenatal and postnatal insults to the CNS, but for many the cause is unknown • There is no single diagnostic workup that is appropriate to all cases

44. Management of ID • Aim of pediatric management • provide support to people with ID and their families • to assist them in creating personally satisfying lives for themselves • diagnose specific syndromes or treatable conditions

45. ID: Benefits of Genetic Evaluation (patient) • Identification of appropriate medical and non medical therapies • Identification of indicated interventions/referrals • presymptomatic screening for associated disabilities • Education planning • Eliminate unnecessary testing

46. Management • Most causes of ID are not treatable directly • Number of medical conditions associated with ID that are completely treatable remains small (PKU) • Key components involved in informing parents

47. Intellectual disability: take home messages • Being an advocate for the parent(s) or caregiver(s) and helping them to advocate rights for their child

48. Section III • Language

49. Important questions • What is communication? • What is language?

50. Communication – What is it? • Non verbal; body language, gestures and signs • Verbal • Speech: articulation, voice and fluency • Language: receptive and expressive