Simon and ADHD
Simon gets distracted by any little event, and has the attention span of a flea.
Often he acts before he thinks and never learns from his mistakes, lives for the moment and gets swept away by whatever is happening to him right then and there.
He has no sense of time at all and that is how Attention Deficit Hypoactive Disorder
is typically considered.
A description of the whole picture goes much deeper. I scream at him in frustration
although i know he can't help it. If he does do anything it takes forever and most times i have to do it myself and he screams back at me because he doesn't want me to
interfere.
He is so disorganised and he never finishes anything. No matter what i do by the way of begging, persuading or rewarding, he keeps on doing the same stupid things over and over again. He never considers the consequences of his actions and doesn't seem to care how much they hurt. its easy for him to get overwhelmed and sometimes he just wants to turn off and shut everything out. He is so inflexible and unpredictable and can blow up over any little thing.
The spectrum includes a wide range of "executive dysfunction's" (such as, poor or none existent self control and foresight), co-morbid disorders (such as anxiety, depression and bad conduct).
As if this were not bad enough, Simon also has to cope with Tourette's Syndrome.
This disorder manifests itself by physical jerks, verbal outbursts, throat clearing and in his case to a lesser extent, swearing. The condition causes Simon a considerable amount of embarrassment. Add that to ADHD and this increases his frustration, his anxiety, depression and his self control. Because of his lack of sense of time, these outbursts do also happen through the night and are of great concern especially to his neighbours and have resulted in him being evicted on more than one occasion. Couple Tourette's with ADHD and things can only get worse and they do, which must be awful for anyone to have to tolerate.
Now add a third dimension , that of X-linked recessive Ichthyosis. This is the most complicated condition. To put simply, in 80% of sufferers its the inability to shed dead skin caused by a mutation or deletion of the steroid sulphatase gene(STS) located on the short arm of the 'X' chromosome, in the other 20% of sufferers there are further complications. In Simon's case (and my two grandsons Christopher and Stephen) there is a very large deletion with many unknown effects, some that are known are the marker (absent) DXS 996 that is known to correlate with mental retardation. In more recent times deleted genes Nuroligin4 (NLGN4)and VCX-A. Both are known to cause mental problems,NLGN4 affects the molecules at the nerve ends in the brain.
Put this all together and Simon has nothing left to fight with. He desperately needs to look after his skin both for hygiene purposes and to protect against infection.
As a foot note, there are four in the family with the same deletion; Simon, Stephen, Christopher. The fourth member of the family is an uncle who has been in care since his early years. I have never met him and he must be now in his 60s.
writen by Mr W English (father and appointee to Simon and Grandfather of Christopher and Stephen) mum of chris and stephen is Gail.....
Sunday 17 October 2010
Friday 15 October 2010
Tuesday 2 March 2010
We are family 2 in the study
Case B is a 10 year old boy who was diagnosed prenatally with STS deficiency when maternal serum screening showed very low unconjugated oestroil. He was born at full term by emergency caesarean section for fetal distress following a 40 h trial of labour but was well neonatally. His motor milestones were delayed and he did no walk unsupported until 22 months. He began to use single words at 13 months but stopped doing so at around 15 months.
At age 10 years he used few single words, sometimes babbles ans sometimes echoes words that are said to him. He demonstrates his needs by screaming or leading carers to what he wants. He does not point things out and uses few gestures to communicate. He is very sensitive to noises such as washing machine noise or children crying. He probably understands some dozens of words. He shows a limited rang of facial expressions when encouraged and makes little eye contact. He smiles in greeting and is very (sometimes overwhelmingly) physically affectionate but dose not show or share toys or activities unless he needs help.
He shows a number of repetitive behaviours, such as spinning things, turning the hands round on a toy clock, or spinning round himself. He also flicks and twiddles items, flaps his hands, opens and shuts doors, and enjoys flickering light patterns. He shows other sensory interests such as feeling silk, hair and leather. He does not tolerate even small changes in his routine or environment, such as the TV being moved or his mother getting new glasses. He has negative reactions to some stimuli such as washing or hair brushing and shows a number of motor stereotypies including complex behaviours like flapping while jumping on the spot, and some toe-walking. When distressed he sometimes bites himself. Motor coordination continues to be impaired, he not yet toitst trained, and has difficulty eating solids. He has never had clear epileptic seizures but "absence" episodes have been noted on a number of occasions.
During the stuctured play assessment at the age of four and a half (ADOS-G, module 1 for children with no or minimal language) he was not spontaneously interested in toys but did some basic play when encouraged directly. He showed eye contact and vocalisation only when requesting an action to be repeated, used adults hands as tools to perform tasks, did not demonstrate social interaction or pretend play, and showed some hand flapping and twirling behaviours. During informal observation he walked around the room staring at lights and making repetitve vocalisations of single syllables. Employing the ADI standardised assessment, he fulfilled all the diagnostic criteria for autism, with delayed language development, clear impairment in social communication and reciprocal social interaction, repetitive and stereotyped behaviour and sensory abnormalities. He also has significant global developmental delay, sleep difficulties, some aggressive behaviour and self-harm when upset, and although he fulfilled criteria for combined type ADHD in this study, this diagnosis has not been formally made given his other difficulties.
Case C is the younger brother of case B, and STS deficiency was confirmed prenatally with very low maternal serum unconjugated oestriol. He underwent developmental assessments at the age of 2 years and 2 years and 10 months using Giffiths Mental Development Scales. He was found to be performing at a developmental level equivalent to half his chronological age on locomotor, personal, hearing, language, and eye and hand coordination skills,suggesting moderate learning disabiliy.
At about the age of 3 he was assessed for a possible autistic spectrum disorder as he was exhibiting some behaviours similar to his brother described above, such as walking on tiptoes and some hand flapping. He had intense interests for example, a particular video which he watched repetitively. He was noted to be fixated on cars and trains, which he lined up and gazed at sideways. He showed some pretend play but it was basic and repetitive and he played very much to his own agenda. He also liked repetitively pressing light switches and buttons on and off. He showed limited use of gestures and pointing, limited eye contact and facial expressions. His spreech was mainly i single words and he was echoing the language of others. He often whined and cried, unable to communicate what he wanted. He did not enjoy being cuddled. He was aware of other children but tended to be aggressive if they came too close and did not like sharing toys. He had a few friends but did not acknowledge them if seen out of context. Following an ADOS-G module 1 and ADI-R assessment, he was given a diagnosis of atypical autism. An IQ assessment demonstrated an overall full scale IQ of 95 but his cognitive profile was uneven with strengths in geometric design and picture completion and weaknesses in comprehension and similarities. He fulfilled criteria for combined type ADHD.
At age 10 years he used few single words, sometimes babbles ans sometimes echoes words that are said to him. He demonstrates his needs by screaming or leading carers to what he wants. He does not point things out and uses few gestures to communicate. He is very sensitive to noises such as washing machine noise or children crying. He probably understands some dozens of words. He shows a limited rang of facial expressions when encouraged and makes little eye contact. He smiles in greeting and is very (sometimes overwhelmingly) physically affectionate but dose not show or share toys or activities unless he needs help.
He shows a number of repetitive behaviours, such as spinning things, turning the hands round on a toy clock, or spinning round himself. He also flicks and twiddles items, flaps his hands, opens and shuts doors, and enjoys flickering light patterns. He shows other sensory interests such as feeling silk, hair and leather. He does not tolerate even small changes in his routine or environment, such as the TV being moved or his mother getting new glasses. He has negative reactions to some stimuli such as washing or hair brushing and shows a number of motor stereotypies including complex behaviours like flapping while jumping on the spot, and some toe-walking. When distressed he sometimes bites himself. Motor coordination continues to be impaired, he not yet toitst trained, and has difficulty eating solids. He has never had clear epileptic seizures but "absence" episodes have been noted on a number of occasions.
During the stuctured play assessment at the age of four and a half (ADOS-G, module 1 for children with no or minimal language) he was not spontaneously interested in toys but did some basic play when encouraged directly. He showed eye contact and vocalisation only when requesting an action to be repeated, used adults hands as tools to perform tasks, did not demonstrate social interaction or pretend play, and showed some hand flapping and twirling behaviours. During informal observation he walked around the room staring at lights and making repetitve vocalisations of single syllables. Employing the ADI standardised assessment, he fulfilled all the diagnostic criteria for autism, with delayed language development, clear impairment in social communication and reciprocal social interaction, repetitive and stereotyped behaviour and sensory abnormalities. He also has significant global developmental delay, sleep difficulties, some aggressive behaviour and self-harm when upset, and although he fulfilled criteria for combined type ADHD in this study, this diagnosis has not been formally made given his other difficulties.
Case C is the younger brother of case B, and STS deficiency was confirmed prenatally with very low maternal serum unconjugated oestriol. He underwent developmental assessments at the age of 2 years and 2 years and 10 months using Giffiths Mental Development Scales. He was found to be performing at a developmental level equivalent to half his chronological age on locomotor, personal, hearing, language, and eye and hand coordination skills,suggesting moderate learning disabiliy.
At about the age of 3 he was assessed for a possible autistic spectrum disorder as he was exhibiting some behaviours similar to his brother described above, such as walking on tiptoes and some hand flapping. He had intense interests for example, a particular video which he watched repetitively. He was noted to be fixated on cars and trains, which he lined up and gazed at sideways. He showed some pretend play but it was basic and repetitive and he played very much to his own agenda. He also liked repetitively pressing light switches and buttons on and off. He showed limited use of gestures and pointing, limited eye contact and facial expressions. His spreech was mainly i single words and he was echoing the language of others. He often whined and cried, unable to communicate what he wanted. He did not enjoy being cuddled. He was aware of other children but tended to be aggressive if they came too close and did not like sharing toys. He had a few friends but did not acknowledge them if seen out of context. Following an ADOS-G module 1 and ADI-R assessment, he was given a diagnosis of atypical autism. An IQ assessment demonstrated an overall full scale IQ of 95 but his cognitive profile was uneven with strengths in geometric design and picture completion and weaknesses in comprehension and similarities. He fulfilled criteria for combined type ADHD.
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