Dr James Kiff Specialist Clinical Psychologist Cleft Lip and Palate team Addenbrooke’s Hospital

1. Dr James Kiff Specialist Clinical Psychologist Cleft Lip and Palate team Addenbrooke’s Hospital 22q11 Deletion Syndrome Also known as DiGeorge Syndrome, Velo-Cardio-Facial Syndrome (VCFS) or Shprintzen Syndrome

2. Teachers are expected to reach unattainable goals with inadequate tools. The miracle is that at times they accomplish this impossible task Dr Haim Ginott

3. Objectives • Background to the syndrome • What is it and how common? • What are the common features? • Developmental and cognitive features • The challenges to education in 22q11.2DS • The learning style in 22q11.2DS • Approaches to support • Relevant example

4. Chromosome 22 What is 22q11.2 Deletion Syndrome? • Chromosomes are the structures found in the nucleus of the body’s cells. They contain the genetic information that define how we develop, grow and function; • We each have 23 pairs – one the mother and the other from the father; • The chromosomes are numbered from 1 to 22 with the 23rd pair, called the sex chromosomes determining whether we are male of female; • 22q11 deletion syndrome results when a tiny part is missing from one copy of chromosome 22, the q11.2 indicates exactly where this is.

5. Chromosome 22 How common is 22q11.2DS • Most common chromosome deletion; • Affects between 1:18001 and 1:40002; • Prevalence may be higher as under-diagnosed due to features being mild or often highly variable3; • Affects both males and females with equal frequency; • In 90% of cases it is a ‘de novo’ mutation; • There are people with 22q11.2DS who do not have any obvious features or delayed development. 1 MaxApeal, VCFS Educational Foundation 2 Children’s Hospital of Philadelphia 3 Shrintzen, 2008; Green 2009

6. What are the features of 22q11.2DS? • Most common features; • Heart conditions • Palate abnormalities and associated difficulties with feeding and speech; • Developmental delays and learning difficulties • Less common features; • Immune system difficulties; • Low levels of calcium in the blood (Hypocalcaemia) which can result in seizures; • Kidney abnormalities Every person will have different medical, developmental and cognitive needs

7. What are the Developmental features of 22q11.2DS? • Often late to reach milestones. • Children often short stature, although nearly all will fall within normal range by adulthood. Approx. 4% will be outside the normal range4 • Gross Motor skills (sitting, walking moving) impacted by poor coordination and hypotonia (low muscle tone); • Fine motor skills e.g. handwriting (hand-eye co-ordination and dexterity) • Delayed speech, language and communication 4 Rare Chromosome Disorder Support Group

8. What are the Cognitive features of 22q11.2DS? • Learning and neuropsychological profile; Assets2: Expressive Language Verbal IQ, Verbal comprehension, Rote verbal learning, Rote verbal memory, Word reading, Word decoding Brief auditory perception, attention, and memory Initial auditory attention, Simple focused attention, Auditory perception and memory 2 Children’s Hospital of Philadelphia

9. What are the Cognitive features of 22q11.2DS? • Learning and neuropsychological profile; Deficits2: Executive functions Performance IQ, attention, working memory, initiating/inhibition, planning, organizing & monitoring own behaviour Receptive Language Language processing, Phonological processing, Language comprehension, Social skills, Emotional functioning, Adaptive functioning Visuospatial & perceptual-motor difficulties Mathematics, Non-verbal processing, Visuospatial skills, Visuospatial memory, Facial processing and recall, Motor functions 2 Children’s Hospital of Philadelphia

10. Why do individuals experience developmental and cognitive difficulties in 22q11.2DS? Educational attainment KS1/2 KS3/4 5 Adapted from Savage (1999)

11. What are the challenges to Education in 22q11.2DS? • Developmental and cognitive difficulties impact on learning • Learn to read and write (KS1, KS2) • KS1 often average if slow learners • KS2 Good mechanical language use: spelling and verbal expression but handwriting slow, poorly defined and problems in more complex mathematical concepts emerge over time.

12. What are the challenges to Education in 22q11.2DS? • Developmental and cognitive difficulties impact on learning • Read to learn (KS3, KS4) • Good relative speech, but can mask expressive and receptive language abilities • Comprehension: poor inferential and abstract reasoning/problem solving skills, concept formation • Slow to process information • Working memory, attention and concentration – multitasking, • Complex concepts – time, size, height, width, weight, shape, money, directions, position…etc. etc. • Social world daunting, confusing and frightening

13. What are the challenges to Education in 22q11.2DS? • Developmental and cognitive difficulties impact on learning • Learn to learn (KS5 and beyond) • Individuals rarely learn through self exploration • Rarely are able to ask for help, appearing to ‘give up’ • Lack understanding of non-verbal communication • Present as immature, easily lead and vulnerable • Sensitive but insensitive • Struggle to develop social and independent living skills • Elevated risk of mental health and psychiatric problems

14. A Key challenge to Education in 22q11.2DS? • Understanding the difference between Speech, Language and Communication in that individual; • Communication is the transfer information; language is the system used; speech is the verbal mechanics; facial expression, gesture, posture etc. are non-verbal mechanics • Language is critical to communicate, learn and regulate our behaviour; • The role of verbal versus non-verbal information in communication; • You can have meaningful language without speech – but you cannot have meaningful speech without language; • 22q11.2DS Illustrates pattern of higher Verbal IQ compared to Performance IQ (Rare in the general population)

15. The learning style in 22q11.2DS? • Learn through doing, direct instruction, multisensory approach: • Have difficulty inferring or extracting relevant information through purely reading, listening or watching. • They rarely learn through self-discovery: strategies should emphasize the process to learning or understanding new information, skills • Abstract reasoning and problem solving will need to be taught in a concrete, literal and ‘logical’ way • Use more than one modality: visual, audio, tactile, kinesthetic • Ideally 1:1 or in small groups to aid attention/concentration, identify and agree a signal to help bring them back on task • Allow them more time, reduce distractions, and bear in mind that they tire quicker Stedman (2011)

16. The learning style in 22q11.2DS? • Structured, consistent routine and instructions (process) in the classroom, assignments, homework: • Provide handout of outline of lesson at the beginning • Break activities/tasks and information down into small ‘chunks’ • Support them to sequence activity/task, step-by-step including time usage • Talk/walk them through activity/task, then get them to talk/walk it through for you • Provide templates to aid them to structure their thoughts when undertaking assignments, essays and creative writing • Summary handout of what was learnt during lesson • Repetition, repetition, repetition! Stedman (2011)

17. The learning style in 22q11.2DS? • General strategies to support learning: • Limit or teach note taking in class – requires extensive cognitive effort and working memory abilities • Limit complex written or verbal instructions • Always check understanding – through open questioning • Use electronic aids, computer software • smart pens (e.g. Livescribe), personal organizers, dictation machines etc. • Encourage independent sporting activities, Music, board games etc. • Explicit social skills training and development of life skills, and independent living skills; cooking cleaning, personal hygiene etc.

18. The learning style in 22q11.2DS? • Strategies to support individual in exams: • Application to the board of examinations for… • Additional time • Use of a scribe • Use of a reader • Use of a prompt/script • Regular use in the classroom it is easier to argue for the presence in the exam.

19. What is it like to have 22q11.2DS? From the outside… From the inside… Their frustation…and how we can think about help…

20. Strategies that may help… • Time • Require more time to complete a task e.g. classroom, exams • Break information down • Chunk information into smaller pieces, steps, time duration • Repetition • Frequently repeat the process of learning using multi-sensory forms of information • Never assume understanding • Expressive language should show evidence of receptive language processing not rote learning only. Always enquire as to meaning and for them to show their understanding by asking them to talk through a question, task or answer. • “Why” the question from the frontal cortex • Individuals often do not question behaviour – consequence and can lead to being vulnerable in social situations

21. Strategies that may help… • Present information through multiple modalities • use of experiential learning, visual aids, written and verbal strategies • Keep distractions to a minimum • Minimize noise, visual distractions, other activities and items not necessary for the task or activity – thoughtfully! • Instructions • Write down and walk through instructions or get student to walk you through task or activity and how each step relates to that task or activity • Consistent Structure and Routine • Scaffold the process of learning • Reinforce • Praise, reward and reinforcement of effort over outcome