Dr S Zahid ST5 To Dr Chan

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1 Dr S Zahid ST5 To Dr Chan

2 Mr X 20 years / male/single Living with parents. Unemployed(never worked) Known to LD services since Diagnosed with D82.1Velocardiofacial syndrome--ch.22q11 deletion & Q Cleft Palate since childhood.

3 since May 2012(age of 17 years) Experienced bizarre delusions Time travelled to another world. Riots want to kill her sister(lucy)and he has to protect her. He is combat operative on mission in a war Poor appetite with weight loss

4 Poor sleep-the riots keeping him awake. Withdrawn with reduced self-care mumbling to himself, laughing /clapping to himself. Paranoid abusive towards parents June 2012-first admission- on section 2- Aquarius unit -snowfield Adolescent unit

5 After admission, he thought hospital ward is military barrack and he is General in Army. CT scan-normal Cognitive assessment -Mild LD Full scale IQ 58 Started on Risperidone build up to 2mg OD-Discharged home - Sept 2012 with extra support. Diagnosis F70-Mild Learning Disability Acute Psychotic episode

6 Triggering factors Transition from Charlton Special needs school Shooters hill Pre-occupied with playing Computer war games Stress For Cleft palate surgery(had Pre-op assessment) Predisposition from Velocardiofacial syndrome

7 Followed up by CAMHS team until May 2013 Transferred to EIP-( 18 yrs) July 2013 Risperidone increased to 4mg Nocte Sept Poor sleep, non-engagement at college, irritable, delusional. Risperidone - 6mg Nocte Diagnosis psychosis(possible paranoid schizophrenia)/mild LD Triggers Pre-op assessment for cleft palate & lip surgery/started at New college Hadlow college(argument with staff after 3.5 weeks Never gone back to college since).

8 November 2013 Case referred to LD team LD team taken over. July 2014 Mr X talked about there being another world called as Army assess world in addition to another planet called Pressure planet". Getting confused between what is reality and fantasy. Mr X has gone to look for other parents to Woolwich centre and said he is from other world and wants to go back there. Risperidone increased to 4mg BD.

9 Past Psychiatric History-Ctd December 2014-irraitble,withdrawn,poor sleep/ appetite-weight loss, aggressive towards parents non- compliance to medication. Started on Risperidal consta injection 37.5mg IM 2weekly.

10 Awaiting surgery for left sided cleft palate delayed secondary to poor hygiene. Had 12 surgeries in total since birth-5 ear surgeries 2 surgeries for cleft lip/palate Had surgery for extra digit after birth. 2cardiac surgeries at 7years of age-pda Prone to ear infections-diagnosed with partial immunodeficiency. Seen by SALT for speech problems Allergies Nil

11 Born in UK(Greenwich hospital) Full term-normal delivery-special care unit-had cleft palate repair- 5days-murmur discovered at 6weeks check-up and had cardiac catheter put at 16months old- Spina bifida-5yrs repaired Mum describe as floppy baby All developmental milestones-delayed Neck holding-2yrs Sitting-2.5years Walking 4 years First word 3.5 years-talking 5-6 years

12 Education Preschool special needs Wilmslow close-1-3yrs Attended greenwood primary school until age 11(willowdene)-achieved up to KS1level Gone to Charlton school until 16yrs of age achieved up to KS2. Then at 17 years-gone to shooter hill campus-transport issues Hadlow college-no formal Qualification.

13 Interests Listens to music same song for hours Plays computer games Enjoys doing arts Has 1 friend-in touch on phone Finances Getting DLA/ESA - managed by his family. Relationships nil Social History Lives with parents Had extra support 10 hrs/week goes for playing pool/bowling/swimming spends alternate weeks with his aunt

14 Substance misuse Non-smoker Alcohol takes whisky 1 sip/day bottle last for 2 months No illicit drugs.

15 In English, able to read or write to a limited degree Can travel independently on public transport on familiar routes but unable to plan a new journey. Dresses- without supervision. Attends to personal hygiene but needs a lot of prompting. Mum - cooking/shopping/washing.

16 Nil.

17 Mother: 42yrs-works in retail suffers from migraine-recently diagnosed with Trichorhinophalangeal syndrome or Langer-Giedion syndrome Father-45yrs has Velocardiofacial syndrome-less affected works as a gardener for a local authority. Not known to have a major disability. 1 older brother 24 years works at Harvester in local area Nan- Trichorhinophalangeal syndrome / Langer- Giedion syndrome 1 cousins Mild LD

18 May 2015 packed his bags-girlfriend is coming to pick me up. She lost the keys for spaceship so when she finds them, will come to pick me up. June 2015 gone with mum for shopping-said I will not let my daughter do this. 10 July 2015-argument with dad/threatenedpolice involved-informal admission- Risperidal consta increased to 50mg IM 2 weekly-family therapy-more nursing input

19 Psychosis presentation in velocardiofacial syndrome. Not first rank s/s as in schizophrenia bizarre delusions Fantasy like but getting better with Risperidone- Response to anti-psychotics in Velocardiofacial syndrome gets better on a particular dose for few months and then again s/s come back which gets better when dose is increased. Need for assessment/ investigations to rule out other conditions as Tricho-rhino-phalangeal syndrome (extra digit at birth/bone resorbtion etc)

20 Shprintzen and colleagues first described the syndrome in [1] Approximately 1 in 2,000-5,000 children are born with VCFS. More than 180 different clinical features are associated with it. About 10% of patients with velocardiofacial syndrome have DiGeorge syndrome, which consists of at least 2 of the following features: Conotruncal cardiac anomaly Hypoparathyroidism, hypocalcemia Thymic aplasia, immune deficiency

21 Autosomal dominant genetic disorder named after the two doctors who undertook the main research into the condition in the 1960s. Cause Deletion 8q23.2 to q24.1. The syndrome occurs when a small piece of chromosome 8 long arm, which contains a number of genes, (TRPS1 and EXT1 )is missing. The missing portion of the chromosome is 8q23-q24. Symptoms The features associated with this condition include: Mild to Moderate learning difficulties, short stature, unique facial features, small head and skeletal abnormalities including bony growths projecting from the surfaces of bones. Typically individuals with Langer Giedion syndrome have fine scalp hair, ears that may be large or prominent, broad eyebrows, deep-set eyes, a bulbous nose, long narrow upper lip, and missing teeth. Diagnosis Diagnosis is based on clinical findings and can be confirmed by cytogenetic testing Treatment While no genetic syndrome is capable of being cured, treatments are available for some symptoms. External fixators have been used for limbic and facial reconstructions.

22 Literature review Current Psychiatry Reports April 2009, Volume 11, Issue 2, pp Mar 2009 Psychosis in children with velocardiofacial syndrome (22q11.2 deletion syndrome)edith M. Jolin, Ronald A. Weller, Elizabeth B. Weller The psychiatric disorders most commonly reported in children and adolescents with 22qDS have been attention-deficit/hyperactivity disorder, oppositional defiant disorder, anxiety disorders, and major depression. Psychotic symptoms have been observed in 14% to 28% of children with 22qDS. Response to clozapine in psychosis associated with velo-cardio-facial syndrome.case study Citation: Psychiatry, vol. 4, no. 5, p , (May 2007) Author(s): Yacoub, Adeeb

23 Velocardiofacial syndrome in intellectual disability: Borderline personality disorder behavioral phenotype and treatment with clozapine - A case report Author(s) Biswas A.B., Hands O., White J. Citation: Mental Health Aspects of Developmental Disabilities, July 2008, vol./is. 11/3(94-100), (July/August 2008) Publication Date: July 2008 Source: EMBASE markedly high incidence (~ 40%) of schizophrenia, bipolar disorder and depression in late adolescence and adulthood in individuals with the deletion.

24 Thank you

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