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.