James

Around the time of James’ second birthday, we began to have some concerns.  Up until then, our third son had been meeting all developmental milestones.  He was a happy, sociable boy who joined in fully with family life.  He enjoyed story books, colouring, singing nursery rhymes and going to a playgroup.  He was using a spoon to eat, holding a pencil correctly and beginning to toilet train.  He had an extensive vocabulary of about 150+ words and appeared advanced in some areas, recognising and articulating colours, numbers and all the letters of the alphabet.  However, some things were beginning to puzzle us.  Although able to put words together, such as ‘want to get down’, he was not using his voice to draw attention to himself or his interests.  He had become a little aloof and I was surprised when he didn’t seem interested inthe first heavy snowfall he had witnessed.  One month after this he had his first obvious regression, after being ‘out of sorts’ for several days with what seemed to be a cold.  Over just a few days his personality changed dramatically.  He would disappear to his bed and cover his head with a duvet as if suddenly overwhelmed by the world around him.  He was often tearful.  He wore a blank expression, seemed lost and depressed, uninterested in playing or joining in.  Sometimes, if he woke from a daytime nap, he would scream hystericallyas if caught in a frightening place between sleep and wakefulness.  He developed a range of ‘stimming’ behaviours, and his play became restricted to stacking and dropping objects.  One of his frequent ‘stims’ was to fiddle with his shirt, chew his lip and stare blankly; I now wonder if this was a form of absence seizure.

He was assessed by a paediatrician soon after and diagnosed with autism.  We started a home ABA programme, and felt he was responding positively to this.  However, a year in, it was apparent that he had not actually gained any skills since starting the programme.  Between the ages of 4 and 5 he had a further regression, losing skills which were established before the age of two.  He would now only eat with his fingers andfound no purpose for crayons and toys other than putting themin his mouth or fiddling with them.  Sleep became very disturbed. His vocabulary reduced dramatically although his receptive language remained slightly more intact.  By the time he started at a specialised school at 5 years old, he had about 15 words left and over the next couple of years he lost all these as well, semi-pronounced nursery rhymes being the last to fade. He was very active with a short attention span butmaintained strong eye contact.  He constantly sought oral sensory stimulation and eating non-food items has remained a serious concern.

At school, rather than gaining skills he moved down abilitylevels into the ‘profound and multiple learning difficulties’ stream.  He was unable to make progress with any of thecommunication systems offered. We did eventually win our battle with toilet training, although accidents do still occur. At age 7 he was diagnosed with epilepsy, initially presenting as drop seizures and later evolving into the tonic-clonic type. At the age of 10, feeling the term ‘regressive autism’ did not adequately describe the catastrophic level of deterioration, we asked for a referral to the Evelina London Children’s Hospitaland here he was diagnosed with Childhood Disintegrative Disorder, although it was explained that this term was nolonger formally recognised, having been subsumed under the autistic spectrum umbrella.  Although exhibiting a number of challenging behaviours, his mood at this stage was relativelysteady, and he was usually content to take part in family and school activities.

Between the ages of 16 and 21 James’ behaviour became increasingly difficult to manage.  This manifested in frequent and extended episodes of screaming and violent head bangingon walls and windows, and aggression towards others in the vicinity.  This could happen day or night, sometimes associated with a trigger we thought we understood but oftenappeared to happen completely out-of-the-blue. This latter type of onset would be preceded by a period of catatonic-like inactivity, ending abruptly in an explosion of rage.  He was unable to cope with school or any other placements that were offered.  His life became restricted to the family home and even visitors were not well tolerated.  

After trialling various medications, he has responded very well to an anti-psychotic, aripiprazole.  He is now much more stable in mood and is slowly expanding activities that he enjoys outside of the home.  He requires 24-hour care which is provided half of the week by us and the other half by live-in carers.