By Jobbing Teacher Follow me on Facebook
My 3 year old son has a 2.1 Mb microdeletion of chromosome 12 (region q12), and a number of medical issues including long-sightedness, squint, astigmatism, bilateral inguinal hernias, abnormalities of the renal system and short stature, soft dysmorphic features and eczema.
Deletions of this particular chromosomal region are very rare and there is limited information about the implications of this specific genetic mutation. However abnormalities noted in other children with deletions of the same chromosomal region include global developmental delay, impaired communication and delayed language, learning difficulty necessitating a statement of special educational needs and 1:1 support at a special needs school. Behavioural traits noted include good sociability, poor sense of danger and ‘generally well behaved but shouts or cries if you stop him doing what he wants, take him somewhere he doesn’t like or make him do an activity he doesn’t want to do’.
He has been found to have developmental delay in several areas, including gross motor and language. A formal developmental assessment was carried out by the community paediatrician using the Griffiths developmental scale at 31 months (He is now 38 months) and he was found to have an even developmental profile with an estimate of skills range of 24-30 months. A Griffiths scale has since not been repeated. My son’s preschool keyworker has observed him and noted areas of concern with particular regard to communication, language & speaking and understanding. At age 36 months my son was assessed to be within the range of 16-26 month stage and borderline 16-26/22-36 month stage for literacy/reading.
All in all, we are worried about how he will cope in Primary school, particularly when we see how his elder brother (aged 5) is being pushed in a reception class of 30 children. In particular we are very concerned;
- That he is currently unable to fully access the range of educational opportunities available to him.
My son has a limited range of interests which he seems highly fixated on (eg trying on shoes/bags, playing with keys, the family car, the CD player at preschool!). It is difficult to successfully divert his attention from these areas and engage him in other activities (eg looking at books, singing).
- Delayed development of his language and communication.
My son has a wide range of words, but immature speech and sentences. He often gives incongruous answers to questions (eg Mum: ‘Did you play outside today?’ Son: ‘Go in our car’). He seems to preferentially use non verbal communication eg eye/finger pointing, nodding/shaking his head, grunts/cries, pulling/pushing. My son has developed an intermittent stutter over since Oct/Nov 2013.
- Difficulties with following instructions and conforming to behavioural expectations both at school and at home.
My son is capable of understanding and following simple instructions (eg please go to the buggy and put your hat on). However he often chooses not to obey simple instructions and instead pursues an activity of his own choosing. When this behaviour is challenged he becomes upset and shouts/cries, throws himself on the floor and often cannot be persuaded to behave as desired! Recently my son’s class performed a Chinese dragon procession for the parents at preschool. He was unable/unwilling to join in the activity, didn’t take the cues from the other children to be part of the activity and instead wandered around the setting following his own interests.
My 5 year old child is mature, well behaved, supportive and loving towards his younger brother. My 3 year old learns a lot from being with him but we have noticed that he doesn’t pick up the behavioural cues from his brother (eg he often doesn’t come to the table to eat tea, even when we have asked him to and his elder brother has already followed the instruction).
- That his level of understanding and comprehension is difficult to judge, but seems not to be convincingly age appropriate.
My son often answers questions with inappropriate answers unrelated to the question asked. He cannot count numbers and is only just beginning to consistently name colours. We are very concerned that he will be unable to cope at Primary school without a high level of support and attention.
Does anyone else have a child with a similar chromosome deletion and/or similar experiences? Any advice would be greatly appreciated