I woke up this wrong with an urge to stay at home, although I did indicate yesterday to my colleagues that I hoped to come for half a day! I was hoping to go for a wedding of a relative in the family. However I became conscious of another movement within. While glancing through my recent photographs, I came across this photo of an egret ready to fly!
I was still dwelling on a significant experience yesterday and pondering over it to discern a message of interpretation.
It was with this shadow within me, I read the portion of the writing of St Paul in I Thess.3:1, where he wrote about his desire, '.. to be left behind at Athens alone'! The context of this expression receives meaning only when one reads the previous and the succeeding chapters to get clarity of the background. He certainly spoke about not being able to 'endure it no longer'. It was possibly a personally difficult experience that he was referring to. So his preference to be left behind at Athens, is an expression of finding his 'vocation' in difficult times, about which he wrote in some details in the three chapters.
This helped me to look inward, backward and forward!
When Anna composed this blog for me in 2013, it was for the purpose of writing my professional experiences of the last thirty five years. She had hoped that my time in the post retirement season would be largely spent in writing to consolidate and summarise the years that have gone by. I confess that I did write but not sufficiently on professional experiences.
So 'Athens' became a symbol to me of my professional experiences and I woke up to embrace a new consciousness that 'I am left behind with my professional experiences' to dwell on them. The photo of the dragon fly was the one which helped me to get a sense of the 'bonding' I am called to arrive at with professional writing just as the dragonfly is naturally bonded to a still stem.
So I re-begin this blog posting with reflections on my professional experiences. I hope it would cover a spectrum of professional experiences on a regular basis.
I begin with my experiences of children, who have a phenotype of Rubinstein-Taybi Syndrome
The first time I came across a child with Rubinstein-Taybi syndrome was during my post graduate training at Medical College, Nagpur, in 1978, when the late professor A.M.Sur drew my attention to a child who had broad thumbs and great toes and said that such a combination is usually is seen in Rubinstein-Taybi Syndrome. They have also some characteristic features like bushy eyebrows, long eye lashes, slanting eyes, downwardly placed nasal septum, micrognanthia, malocclusion, cervical hyperkyphosis, multi system disorder, etc. However the broad thumb is a diagnostic clue!
While working with late professor Malathi Jadhav at CMC Vellore between 1981-83, I had a first hand experience of how meticulously she made diagnosis of different dysmorphic syndromes. She had the Smith's text book of Recognisable patterns of Human Malforamtion beside her in the out patient area, which she referred to look for confirmation of her suspicion of different syndromes. That was the first formal introduction I had to develop a protocol of clinical diagnostic approach to dysmorphic syndromes. I came across at least forty different syndromes professor Malathi was able to diagnose. While on a conversation with her once, she mentioned to me about her habit of going through the photographs of different syndromes in the Smith's book, which helped her in her visual memory to recollect a syndrome when she saw a child. This experience augmented my interest in looking for dysmorphic features in children since then. Professor Malathi was satisfied with clinical diagnosis and did not pursue chromosomal identification unless it was for the purpose of helping families to plan for another pregnancy.
The phenotype of Rubinstein-Taybi (R-TS) was one among the first six largest number of dysmorphic states which Professor Malathi diagnosed, although this condition was considered to be rare. She had, over her twenty five years of clinical work, come across fifty five children, whom she suspected to have this condition. It was therefore not so rare as it was perceived to be.
While at the ASHIRVAD Child Development Centre, Chennai from 1983 to 1997, I have a record of of making a clinical diagnosis of phenotype of R-TS in eleven children. It was during that time, I also had the opportunity to have some children come for regular visits. Five children were below five years, three between six and nine and three others above ten. Five of them kept in touch for five or more years. It is this ongoing contact that helped me to develop an orientation about the expression of this phenotype in motor development, cognition, behaviour, social skills, academic functions and co-morbidities. What was distinct about them was the several difficulties in academic achievements of reading, writing, attention, association, working memory, gross body co-ordination, and penmanship. They struggled with self esteem, social behaviour, communication, and adaptation to daily living requirements. There were two children in this group who suffered from conductive haring impairment. Two required surgery for undescended testis and three needed thyroid hormone supplementation. There was one child who needed attention for obstructive apnoea which improved with orthodontic treatment. Four out of the five needed corrective eye wear during the follow up period. Two had Atrial Septal or Ventricular Septal defect which could be medically managed till they were ready financially for surgery or device closure. All the five children on five year follow up did not show required skills to belong to a formal class room setting. I remember presenting the clinical phenotype of R-TS in one Paediatric meeting to create an awareness about this dysmorphic syndrome.
During my term of training at the Institute of Child Health, Great Ormond street children's hospital, London, in 1986 I was introduced to the dysmorphology section in the hospital. A few visits and conversations and subsequent visits did help me to understand some board outlines in dysmorphology approach in clinical practice. In fact it was from that unit I got an insight about the value of clinical photography.
It was during my time at CMC Vellore in the Developmental Paediatrics Unit between 1997 and 2008, I got further drawn into understanding R-TS. Dr Shiv Shankar, a resident was a reason for this. When he brought a child for clinical discussion in the out patient, I directed him towards the diagnosis of R-TS. I mentioned to him that there might be about ten children with this syndrome who might be in touch with the department. That stimulated him to keep a track of these children and gathered clinical details of 18 children with R-TS. He prepared a monogram of the clinical and laboratory data of these children. Although this could not be published as it lacked enough documentary evidence, the description of the phenotype gave me a greater understanding about some special aspects which I had not explored enough until then. The screening for cervical vertebral anomalies, Electroencephalographic changes of Electrical Rhythm Dysfunction, Sleep monitoring for sleep disorders or Parasomnia with or without obstructive sleep apnoea, endocrine disorders, and Gastro-oesophageal Reflux disorders were helpful to identify the co-morbidites present in children with R-BS. It was possible to intervene to limit the disabling physical deformities of hands and feet and offer fundal plication for children who had severe gastro-oesophageal Reflux disease. The button feeding gastrostomy was a procedure which the Paediatric surgery professor Sudipta Sen was glad to perform. The splints designed by the occupational therapists helped in improving the penmanship of school going children. One innovation that evolved during my time was to address the co-morbidity of urological complications like hydronephrosis by addressing the vesico-ureteric reflux surgically. The genetics of R-TS was looked into in a few situations to help families to plan for another pregnancy,
When I came to MOSC Medical college in 2013, I kept looking for children with R-BS. The first child I came cross was nine months old, who was fed on a nasogastric tube and the diagnosis of R-BS was not yet made. During the clinical examination, there were signs of cryptorchidism, congenital cyanotic heart disease, cervical kyphosis, signs of vitamin deficiency, and Gastro-oesophageal Reflux disease. Following fundal plication and feeding gastrostomy, the child made progress to receive device closure of ASD, orchidopexy, and management of sitting posture to correct kyphosis. The out-turning of the great toes and medial placement of thumbs could be partly restrained. It is one child we could keep monitoring for hearing impairment, refractive error, and haematological and hormonal parameters. Although his anthropometry is still below the fiftieth centile, there is no growth stagnation. The protection by pneumococcal vaccine, correction of obstructive apnoea by postural care and oro-facial corrective steps contributed to some stability. During the last five and half years I realised that some of the difficulties I came across in children with R-TS could be limited by an anticipatory planning. Recently his behavioural difficulties of anger and episodic dyscontrol too could be treated by treating his electrical rhythm dysfunctio in the EEG. The familie's response to school related difficulties and peer relationships are deciding factors in behaviour organisation. The regular support the psychologist, occupational therapist and speech therapist offered have had a transforming impact on his developmental process.
There are another three children who keep coming back for follow up, although not so regularly.
Let me summarise my experiences by sharing some practice guidelines for children with phenotype of R-TS !
1. As far as possible make a diagnosis of this syndrome during the neonatal period. It is desirable to follow a protocol of practice to evaluate a newborn morphologically at the end of the first month when early phenotypical features might be evident.
2. The worrying and struggling situation is due to the feeding difficulty. At the end of four months of age, if the feeding difficulties lead to signs of underweight, it is necessary to keep the option of feeding gastrostomy with a plan to replace the gastric feeding with oral feeding before the second birthday.
3. Keep monitoring for signs of vitamin D deficiency as these children being hypotonic do not move enough early in childhood because of which they are mostly bed bound, which increases the risk to vitamin D-calcium imbalance.
4. Encourage parents for spacing of children, while the diagnosis is being ascertained and planned pregnancy is contemplated after due consideration based on genetic information. I remember two parents choosing to adopt when they weighed the risk to normal pregnancy
5. The correction of cardiovascular anomalies, undescended testis, vesico-ureteric reflux ought to be early rather than late. It is the optimisation of the developmental prospects that would augment the quality of life. All the co-morbidities when not detected or untreated would have an adverse influence, overtly or covertly.
6. A neuro-developmental appraisal once in four months is desirable to keep a watch on the antecedental events or for early anticipatory planning to contain the co-morbidities.
7. As almost all children with R-TS would have skeletal changes in the thumbs and great toes, plan for splinting of the thumbs and toes from the first few months. Active stretching would be some value. The camptodactyly also can be conservatively treated.
8. An early x-ray evaluation of the cervical spine is most helpful to plan for preventing the hyperkyphosis of the cervical spine. It is desirable to have an adapted chair for use at home, during road travels and while joining the Kindergarten to provide sufficient protection to the upper thoracic spine to keep it erect. When spinal fusion exists such as the Klippel Feil deformity, further care would be needed to protect the neck
9. As the orbits of the eyes have some changes in their anatomy, enophthalmos, lacrimal duct dysplasia, blepharitis, refractive error, strabismus, laterocollis, glaucoma, etc can occur. A regular visit to a paediatric ophthalmologist is mandatory.
10. Microcephaly can be associated with craniosynostosis, which might be attributable to muscular or bony origin. When there is change in the shape of the skull, it is necessary to monitor for its impact on the cortex, which is best monitored by looking for upper neutron changes and asking for EEG and MRI of brain.
11.The growth velocity needs to be monitored and in view of cryptorchidism, testosterone levels would also need monitoring. The growth hormone study is desirable when needed.
12. An integrated approach with the involvement of a Developmental paediatrician, therapists, paediatric orthopaedician, paediatric endocrinologist, paediatric physiatrist, orthotist, geneticist and a family counsellor is what is preferable.
13. The schooling years would throw up some challenges as their cognitive skills might not be comparable with class room requirements. This can be compounded with behavioural difficulties of inattention, rage behaviour, hyperactivity etc. The developmental psychologist, school counsellor, and child and adolescent psychiatrist would have lot to contribute to respond to these challenges.
14. Most children develop language skills although there are some departures in articulation, phonation and prosody. A language therapist can help in improving comprehension with the use of pictures and computer applications from early years and parents can get into the practice of story reading from pictorial illustrations to improve association functions and fund of information.
15 . An occupational therapist ought to plan from early years to make the hand functions optimal and protect posture and co-ordination by using devices and adaptations to the environment.
16. A paediatric orthodontist can plan to help with the angulation that the incisors might develop which along with the narrow palate can make the malocclusion a hindrance for feeding and chewing.
17. It is desirable to alert the anaesthetist about risks during anaesthesia due to cervical hyperkyphosis which can make the intubation difficult. They might even react to some anaesthetic agents producing respiratory distress and cardiac arrhythmia's.
Th oldest person with R-TS that I came across was 21 years and he was working in a restaurant at the coffee machine. The manager of the restaurant did say that he has ups and downs his mood, but is a most dependable worker. They like him because he is humorous and friendly!
Except for the thumb and toe abnormalities and a few facial features both of which can be corrected through reconstructive surgery, there might not be too many challenges during adolescence or thereafter. However those with cervical vertebrae fusion, carry a risk while diving in to the water or participating in games that need running or jumping.
There are national associations for children of R-TS in some countries who provide support for children, adults and parents. I am not aware of any such activity in India.
I am yet to know of any one married, a man or woman having R-TS.
Having had some experience with about thirty five children with Rubenstein-Taybi Syndrome, I have summarised my observations arising out of my clinical practice protocols.
M.C.Mathew (text and photo)
