Home Healthcare Case Study · AtHomeCare · Ludhiana
Fictional case study, published for educationRubinstein-Taybi Syndrome With Developmental Difficulties, Mobility Challenges and Daily Living Support
A 26-year-old man from Ludhiana, Punjab, living with Rubinstein-Taybi syndrome, received 12 weeks of structured home healthcare. The programme combined home nursing, a trained patient attendant, physiotherapy, home safety changes and family education. By the end of 12 weeks he was more consistent with grooming and dressing, his walking endurance had improved slightly, and his family felt more confident managing his daily care. Support for balance on stairs and outdoors, and help with complex tasks, continues.
- Patient Age26 years
- GenderMale
- CityLudhiana, Punjab
- Primary ConditionRubinstein-Taybi syndrome (RTS)
- Duration of Care12 weeks of structured home support
- Final Clinical OutcomeSafer mobility, better routine participation, slightly improved endurance, continued support needed for balance and complex tasks
Medically reviewed by Dr. Ekta Fageriya, MBBS · Geriatric Medicine · RMC Registration No. 44780
Section 01
Patient Background
Rishaan Walia is a 26-year-old man from Ludhiana, Punjab. He lives with Rubinstein-Taybi syndrome, a rare genetic condition that affects development, growth, learning and physical features. Common features include short stature, distinctive facial features and broad thumbs and toes. No two people with the syndrome are affected in exactly the same way.
Rishaan has lived with developmental and learning difficulties since childhood. He speaks in short sentences and understands familiar instructions well. When a task is new, or has several steps, he needs extra time and calm reminders to work through it.
He moves around his home on his own. His balance and stamina are lower than average. He can lose balance when he changes direction quickly, so someone stays close by on stairs and outdoors. He eats by himself and manages basic grooming, but bathing, dressing and organising his belongings need help or reminders.
He does supported home-based vocational activities. His mother is his primary caregiver and his elder sister helps as the secondary caregiver. The family requested professional home healthcare services in Ludhiana to protect his independence, make his movement safer and share the daily workload.
Clinical reasoning: why the family asked for help now
Nothing acute had happened. There was no emergency, no injury and no hospital admission. The need was long-term support, the kind that keeps a person safe, active and dignified at home for years. This is exactly the situation where planned home healthcare adds the most value. It is easier to prevent a fall, a dental crisis or caregiver exhaustion than to treat them.
Section 02
Clinical Diagnosis and Assessment
What is Rubinstein-Taybi syndrome?
Rubinstein-Taybi syndrome (RTS) is a genetic condition. In most people, it happens because of a change in a gene called CREBBP. In some people, a gene called EP300 is involved. These genes help control how other genes work during growth. A change in them affects many body systems at once, which is why the syndrome touches growth, learning, muscles, teeth, eyes and hearing.
In most cases, RTS appears for the first time in a family. It is not caused by anything the parents did before or during pregnancy. There is no cure, and care aims to support each person’s individual needs across their whole life.
Findings documented for this patient
Table 1. Associated conditions and functional findings on record
| Documented finding | What it means for daily care |
|---|---|
| Developmental and learning difficulties | Tasks are learned through repetition and simple, familiar steps |
| Mild intellectual disability | Instructions work best when they are short and one step at a time |
| Short stature | Grab bars, handrails and seating are placed at his height |
| Broad thumbs and broad great toes | Supportive footwear matters; fine-motor tasks may need more time |
| Reduced muscle strength | Gentle strengthening supports walking and daily activities |
| Balance difficulties | Supervision on stairs and outdoors; fall-prevention measures at home |
| Mild joint stiffness | Regular joint mobility exercises keep movement comfortable |
| Speech and communication difficulty | Short sentences, visual reminders and time to respond |
| Dental care needs | Scheduled dental reviews and daily oral hygiene support |
| Reduced endurance with prolonged activity | Activities are paced, with rest built into the day |
A note on documentation
The details of Rishaan’s childhood genetic test were not part of the home care file. His diagnosis had already been confirmed in childhood after specialist evaluation, which included a genetic assessment. The home care team worked from that confirmed diagnosis and from their own functional assessment at home.
General assessment on entry to home care
- Alert and responsive throughout the day
- Communicates in simple sentences
- Follows familiar instructions reliably
- Mild generalised weakness
- Reduced balance, especially with quick direction changes
- Stable walking on level indoor surfaces
- Needs extra time for complex or unfamiliar tasks
What the care team monitors
The care plan is built around the specific needs that RTS creates for Rishaan. The team tracks developmental functioning, mobility and balance, joint flexibility, communication, vision and hearing, dental and nutritional needs, and his independence in daily activities. These seven areas guide every review.
Doctor’s explanation: why vision, hearing, teeth and heart checks matter in RTS
Eye and hearing problems are seen more often in people with Rubinstein-Taybi syndrome, and dental problems such as crowded teeth are common. Some people with RTS are also born with heart defects. This is why periodic vision, hearing and dental reviews, and cardiac evaluation when clinically indicated, are part of standard care. Finding a small problem early protects independence far better than reacting late.
Section 03
Medical History and Treatment Received
Rishaan needed medical assessments at different stages of childhood because of developmental delay and physical differences. His genetic condition was confirmed following specialist evaluation. During adulthood, his family continued periodic medical follow-up. These reviews covered general health, vision, hearing, dental health and functional abilities.
There was no recent prolonged hospital admission. He was medically stable at home when home care began. This case is therefore about long-term support, not recovery from surgery or intensive care.
Treatment approach: supportive, not curative
There is no single curative treatment for Rubinstein-Taybi syndrome. His care has always focused on managing individual health needs. This includes physiotherapy, occupational therapy, speech and communication support, vision and hearing follow-up, dental care, nutritional monitoring and regular medical reviews. Any medicines required for specific health problems are prescribed and monitored by his own doctors. The home team supports those routines. It does not change them.
Table 2. Healthcare evaluations on record and why each one matters
| Evaluation | Purpose in his care |
|---|---|
| Genetic assessment | Confirmed the diagnosis in childhood and guided long-term planning |
| Developmental assessment | Tracks learning, communication and daily living skills over time |
| Hearing evaluation | Detects hearing loss early, since hearing problems are more common in RTS |
| Vision examination | Protects eyesight, reading of the environment and safe movement |
| Dental assessment | Teeth and gum problems are common in RTS and affect eating and comfort |
| Cardiac evaluation when clinically indicated | Heart defects occur in some people with RTS, so doctors review the heart when advised |
| Physiotherapy assessment | Measures strength, balance and joint movement before planning exercises |
| Occupational therapy assessment | Measures independence in everyday tasks such as dressing and grooming |
| Routine blood investigations as advised | Monitors general health as part of regular medical reviews |
Section 04
Why Home Healthcare Was Needed
Rishaan did not need a hospital. He needed steady, skilled, everyday support. Six clinical reasons shaped the decision to arrange structured home care.
1. The need is lifelong, not an episode
RTS does not resolve. Support that arrives only during a crisis cannot maintain strength, routine or confidence. A planned programme keeps the same carers, the same methods and the same records month after month.
2. Movement carries real risk
His reduced balance, especially during quick turns, on stairs and outdoors, makes falls the single most important preventable harm. Supervised walking, home safety changes and family training all reduce that risk together.
3. Daily living support protects dignity
Help with bathing and dressing from a trained attendant is safer and more private than improvised help. A trained person knows how to assist without taking over, which keeps skills alive.
4. Consistency is itself a treatment
Rishaan performs better when every day follows the same order. A home care team can hold that structure in place even when family schedules change.
5. The family needed structured relief
After more than two decades of caregiving, his mother and sister carried a heavy load. Professional support shares the work and lowers the risk of caregiver stress and burnout, which protects both the family and the patient.
6. Specialist care stays on track
Vision, hearing, dental and medical reviews still matter. The home team keeps records, gives reminders and communicates changes back to the family and the treating doctors. If you are unsure when medical oversight at home becomes necessary, our guide explains when a family in Ludhiana needs a nurse at home.
Clinical reasoning: why an attendant, with nursing oversight, rather than nursing alone
Rishaan is medically stable. His main needs are hands-on daily help, supervision and encouragement, which is the role of a trained patient attendant. Nursing adds value through monitoring, records and coordination, and it becomes essential if his health status changes. Understanding the different roles of nurses and attendants in patient care helped the family choose the right mix instead of over- or under-staffing the home.
Section 05
The Home Care Plan by AtHomeCare
The plan had one goal: help Rishaan remain as independent and safe as possible. Every service below was chosen because of a specific need identified during assessment, not as a general package.
Home Nursing
A trained home nurse supported the family with:
- Monitoring general health and wellbeing
- Checking vital signs when required
- Maintaining clear, dated care records
- Supporting the medication routine as prescribed
- Monitoring nutrition and hydration
- Identifying changes in functional ability early
- Communicating concerns to the family and the treating doctor
Medication changes are never made by the home nurse without medical instructions. Learn more about AtHomeCare’s home nursing services.
Patient Attendant
A trained attendant provided daily patient care support with:
- Bathing and personal hygiene
- Dressing assistance
- Safe walking and supervision
- Meal preparation support
- Household organisation
- Appointment preparation
- Companionship
The attendant encouraged Rishaan to complete each task independently whenever it was safe, and used short instructions and visual reminders, the approach that works best for him. Families in the region can read more about patient attendant care at home in Ludhiana.
Physiotherapy and Rehabilitation
Physiotherapy was planned around his individual abilities and included:
- Balance exercises
- Gentle strengthening
- Joint mobility exercises
- Posture training
- Walking practice on level surfaces
- Coordination activities
- Fall-prevention exercises
Occupational therapy practice covered dressing, grooming and organising belongings. Speech and communication support is added when recommended by his healthcare team. A walking aid is considered only after assessment by a qualified professional. Our team explains why physiotherapy matters for safe, steady recovery, and families in Punjab can book home physiotherapy in Ludhiana directly.
Doctor Home Visit
A doctor home visit service was kept available for:
- General health review
- New symptoms
- Changes in functional ability
- Nutrition concerns
- Medication review
- Coordination of ongoing care
Specialist appointments for dental, vision, hearing and other medical reviews continued exactly as advised by his treating doctors. Home visits reduced travel strain while keeping his medical care connected.
Medication Support
His medicines were managed conservatively and safely:
- A weekly pill organiser kept doses clear
- Medicines were given at the same times each day
- The nurse recorded each dose in the care notes
- Any change required a fresh instruction from his doctor
This simple structure prevents missed doses, double doses and confusion. Read how medication monitoring and management works at home.
Nutrition and Hydration
Good nutrition supports muscle strength, energy and healing, all of which matter for a person with reduced strength and endurance:
- Regular, balanced meals at consistent times
- Water offered at set points through the day
- Food textures chosen with his dental needs in mind
- Intake watched at every meal by the attendant
Any significant change in appetite or weight would be reported to his doctor. Families can start with our guide to understanding nutrition.
Home Safety and Equipment
Small changes removed the biggest hazards in his home:
- Bathroom grab bars and non-slip mats, placed at his height
- Handrails along stairs and corridors
- Supportive footwear for every walk
- A shower chair when required
- A visual daily routine chart on the wall
- A pill organiser on a fixed shelf
A walking aid was not introduced during this programme. It will be considered only after assessment by a qualified healthcare professional. Equipment such as grab bars, rails and shower chairs can be sourced through medical equipment rental in Ludhiana, and our guide to practical home safety modifications explains how to place them well.
Family Education
The family was taught to:
- Use short and simple instructions
- Give enough time for Rishaan to respond
- Keep the daily routine predictable
- Encourage independence without compromising safety
- Keep floors and walking areas clear
- Use handrails and bathroom safety equipment
- Attend regular medical, dental, vision and hearing reviews
- Report new functional or behavioural changes to the healthcare team
Education turns the family from helpers into part of the clinical team. Knowing what a caregiver’s role really involves makes that partnership work.
Section 06
A Day in Rishaan’s Care
The daily plan follows the same shape every day. Familiar order, familiar words and familiar places reduce confusion and give him the best chance to do things himself.
Morning
- Wake-up and personal hygiene
- Dressing with assistance if needed
- Breakfast
- Medication routine as prescribed
- Gentle stretching
- Simple communication activities
Afternoon
- Lunch
- Short rest
- Physiotherapy exercises
- Occupational activities
- Simple household task practice
Evening
- Supervised walk
- Personal hygiene
- Light recreational activity
- Family interaction
- Dinner
Night
- Grooming and preparation for sleep
- Medication routine if prescribed
- Review of any unusual symptoms during the day
- Safe and uncluttered sleeping area
Why the routine chart matters
The visual daily routine chart shows each part of the day as a simple picture with a word: bath, dress, eat, exercise, walk, dinner, sleep. Rishaan checks it himself. This one tool converts reminders from spoken nagging into a quiet, predictable system he controls, which is why it appears throughout this case study.
Section 07
The 12-Week Care Timeline
How to read this timeline
To stay accurate, these entries describe what the care team focused on at each stage. Measurable clinical results are reported only where they were documented, mainly at the 12-week review in Section 08. No laboratory values were part of this home care documentation.
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Week 1
Assessment and making the home safer
The team began with a baseline functional assessment: what Rishaan could do alone, what he could do with reminders, and what needed hands-on help. A home safety walkthrough checked grab bars, non-slip mats, handrails, lighting, footwear and clear walking paths. The visual routine chart went up in his room, and nursing care notes started so every visit builds on the last one. Family teaching began with the basics: short sentences, and give him time to answer.
Why this first: you cannot plan safe care until you know the person’s true baseline and the risks inside the home.
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Weeks 2 to 3
Building a steady routine
The attendant established the same order of tasks every day: hygiene, dressing, breakfast, activities. Help was given the same way each time, with the same words, so tasks felt familiar. Rishaan was encouraged to start each step himself, and the attendant stepped in only when needed. The family practised using the chart and the same cueing style between visits.
Why repetition first: adults with developmental difficulties function best when the day is predictable. Repetition turns a task into a habit.
-
Week 4
Rehabilitation moves to the centre
Physiotherapy focused on balance, gentle strengthening, joint mobility and posture, always planned around his abilities. Walking practice happened on level indoor surfaces with someone nearby. Occupational therapy practice worked on dressing, grooming and organising belongings. Reviews with his doctors continued as needed so the home plan stayed aligned with his medical care.
Why now: his strength, joint stiffness and balance were the main limits on independence. Exercise works on all three, but only if it is gentle, regular and safe.
-
Weeks 6 to 8
Endurance and real-world practice
Supervised walks became a settled part of the afternoon and evening routine to build stamina. Stairs and outdoor trips stayed supervised. The team worked on safer ways to do both, not on removing supervision. Communication activities stayed small and daily: short sentences, simple choices, time to respond.
Why this approach: endurance improves slowly with regular, low-risk activity. Safety rules stay strict while fitness improves.
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Week 12
Documented review
At the 12-week review, the documented results were: better participation in the daily routine, more consistency with simple grooming and dressing when visual reminders were used, slightly improved walking endurance with regular supervised exercise, and greater family confidence in managing daily activities. Balance outdoors and on stairs still needs close attention, and he still needs help with several complex activities. RTS is lifelong, so support continues.
Section 08
Clinical Evidence and Documented Findings
Documentation note
These tables are built only from the documented case record. No laboratory values, vital sign trends or investigation reports were recorded in the home care documentation for this patient, so none are shown. Routine blood investigations were carried out only as advised by his treating doctors.
Table 3. Daily function at the start of home care
| Mostly independent | Requires assistance or supervision |
|---|---|
| Eating | Bathing |
| Walking indoors | Dressing |
| Using the toilet | Preparing meals |
| Basic communication | Shopping |
| Simple grooming with reminders | Travelling outside |
| Medication organisation | |
| Complex household activities |
Table 4. 12-week goals and the documented outcome for each
| Goal set at the start | Documented result at the 12-week review |
|---|---|
| 1. Maintain safe indoor mobility | He walked independently indoors, and walking stayed stable on level indoor surfaces. Stairs and outdoor walking continued to need supervision. |
| 2. Improve balance and physical endurance | Walking endurance improved slightly with regular supervised exercise. Balance remained an area needing attention, especially outdoors and on stairs. |
| 3. Maintain joint flexibility | Joint mobility exercises stayed part of the daily and physiotherapy routine. Specific flexibility measurements were not documented in this summary. |
| 4. Reduce fall risk | Home safety measures, supervised walking and family training stayed in place throughout the 12 weeks. Fall events were not recorded in this documentation. |
| 5. Improve participation in personal-care activities | He became more consistent with simple grooming and dressing tasks when visual reminders were used. |
| 6. Maintain good nutrition and hydration | Nutrition and hydration monitoring stayed part of routine nursing care. Specific measurements were not documented in this summary. |
| 7. Encourage communication and decision-making | He took part better in the daily routine, and simple communication activities remained part of each day. |
| 8. Provide consistent caregiver support | The family reported greater confidence in managing his daily activities after 12 weeks of structured support. |
Risks monitored through the programme
The family and care team watch a defined list of risks. Each one is checked in daily care notes and reviewed with the family.
Falls
Loss of balance, especially during quick turns, on stairs and outdoors
Increasing weakness
Less stamina for familiar tasks and walks
Joint stiffness
Reduced range of movement during daily activity
Difficulty walking
New unsteadiness or a changed walking pattern
Vision changes
Squinting, bumping into objects, trouble seeing steps
Hearing difficulties
Asking for repetition, missing calls, turning sound up
Poor nutrition or hydration
Skipped meals, less drinking, low energy
Dental problems
Mouth pain, trouble chewing, visible decay
Behaviour or communication changes
New confusion, withdrawal, fewer or different words
Loss of familiar skills
Tasks he could do alone now needing help
Emergency warning signs
A sudden loss of consciousness, a serious fall, severe breathing difficulty or any other acute medical emergency requires immediate medical attention. Call emergency services first. Families can learn to recognise emergency warning signs at home so they act within minutes, not hours. Home healthcare supports daily care and recovery. It does not replace emergency medical services.
Section 09
Medical Review and Authorship
Treating Physician Verification
The following fields are reserved for the treating physician’s details and sign-off.
Section 10
Supporting Clinical Documents
This case summary draws on the following document types held by the family and the care team. Personal identifiers have been removed, and no confidential patient information is reproduced on this page.
- Genetic evaluation summary from specialist care (childhood diagnosis)
- Developmental assessment records
- Hearing and vision review notes
- Dental records
- Physiotherapy and occupational therapy assessment notes
- Home care notes and daily care records from the 12-week programme
- Medication records as prescribed by his treating doctors
Section 11
Clinical Outcome After 12 Weeks
Summary of the documented outcome
After 12 weeks of structured home support, Rishaan showed better participation in his daily routine. He became more consistent with simple grooming and dressing tasks when visual reminders were used. His walking endurance improved slightly with regular supervised exercises, and his family reported greater confidence in managing his daily activities. This is a realistic, meaningful result for a lifelong genetic condition, and it is exactly the kind of progress home healthcare aims for.
Mobility
He continues to walk independently inside the house, with stable walking on level indoor surfaces. Endurance improved slightly with regular supervised exercise. Balance remains the priority, particularly outdoors and on stairs, where supervision continues.
Personal care and daily routine
Visual reminders made the biggest difference. With the routine chart and a consistent cueing style, grooming and dressing became more reliable. He still needs assistance for bathing, meal preparation and complex household activities, and that assistance is planned, not improvised.
Communication
Short sentences, simple choices and thinking time are now used by everyone in the home. Better participation in the daily routine is the clearest sign that this approach is working for him.
Medical stability
He remained medically stable throughout the programme, with no acute events recorded in this documentation. His medical, dental, vision and hearing reviews continue as advised by his doctors.
Family feedback
The family reported greater confidence in managing his daily activities. They also valued the companionship element of care, which companionship support at home provides alongside practical help.
Remaining challenges
- Balance on stairs and outdoors still needs close attention, and fall-prevention habits continue. Families managing similar risks can start with our complete guide to fall prevention.
- He continues to need assistance for several complex activities. RTS is a lifelong genetic condition, and this level of support is expected, not a failure of care.
Long-term care
Structured home support continues, with goals reset at reviews by his healthcare team. For families planning care that lasts years rather than weeks, it helps to see how integrated nursing and physiotherapy work together in long-term patient care.
Section 12
Key Clinical Learnings
Rare genetic conditions need individualised plans
Rubinstein-Taybi syndrome affects every person differently. What works for one adult may not suit another. Assessment always comes before the plan, and the plan is reviewed as needs change.
Developmental difficulty changes daily living most
For this patient, the real work happened in bathing, dressing, meals and routine, not in medicines. Practical daily function is where home healthcare earns its place.
Physiotherapy protects mobility over years
Gentle, regular exercise keeps strength, flexibility and balance from slipping. Small, consistent sessions beat occasional intense ones, especially when endurance is already reduced.
Occupational therapy turns goals into tasks
Practising a shirt button in the bedroom, with the same shirt, works better than abstract advice. Context makes skills stick.
Senses and teeth need scheduled attention
Vision, hearing and dental reviews prevent the quiet problems that slowly eat away at independence. In RTS, these checks are standard care, not extras.
Predictability is a clinical tool
The same routine, in the same order, lowers confusion and helps a person use the skills they already have. The visual routine chart proved this in Rishaan’s case.
Family education is treatment
When the whole family uses short sentences and gives thinking time, every hour of the day goes better. Teaching the family multiplies everything the care team does.
Home care complements specialists, never replaces them
The home team watches daily, records changes and connects the family back to doctors and specialists. That partnership, not any single service, is what protects the patient.
Section 13
Frequently Asked Questions
1. What is Rubinstein-Taybi syndrome?
Rubinstein-Taybi syndrome is a rare genetic condition. It affects development, growth, learning, physical features and daily functioning. People with the syndrome often have short stature, broad thumbs and toes, and distinctive facial features. Every person is affected differently.
2. What causes Rubinstein-Taybi syndrome, and is it passed down in families?
In most people, the syndrome happens because of a change in a gene called CREBBP. In some people, a gene called EP300 is involved. Most cases are the first one in a family, meaning it was not inherited from a parent. A genetic counsellor can help families understand their specific situation.
3. How common is Rubinstein-Taybi syndrome?
It is rare. Studies estimate about 1 in 100,000 to 1 in 125,000 newborns. Doctors believe it may be underdiagnosed because features vary from person to person.
4. Can adults with Rubinstein-Taybi syndrome live at home?
Yes. Adults can live with their families when the right support is available. The amount of help depends on each person’s abilities, and support can be adjusted over time.
5. Can physiotherapy help a person with Rubinstein-Taybi syndrome?
Physiotherapy can help maintain strength, flexibility, balance and safe movement. Exercises should be chosen to match the person’s abilities and reviewed regularly by a qualified therapist.
6. Why is a daily routine important?
A predictable routine makes familiar activities easier to understand and complete. This is especially helpful for people with developmental or communication difficulties, because repetition builds confidence and independence.
7. Does Rubinstein-Taybi syndrome go away with treatment?
No. It is a lifelong genetic condition. Care focuses on managing health needs, supporting independence and preventing complications.
8. What home changes can improve safety?
Clear walking areas, bathroom grab bars, non-slip mats, handrails, good lighting and supportive footwear reduce common household risks. A walking aid should be used only after assessment by a qualified professional.
9. What does a home attendant actually do for an adult with this condition?
A trained attendant helps with bathing, dressing, personal hygiene, safe walking, meals, organising belongings and preparing for appointments. A good attendant also gives companionship and encourages the person to do each task independently whenever it is safe.
10. When should a family seek emergency help?
Call emergency services immediately for sudden loss of consciousness, a serious fall, severe breathing difficulty, new weakness or unresponsiveness, or any other acute medical emergency. Home healthcare supports daily care and recovery. It does not replace emergency medical services.
Section 14
Related AtHomeCare Services
Each service used in this care plan is available across Ludhiana and the wider Delhi NCR region.
Section 15
Contact AtHomeCare
Corporate Office
Unit No. 703, 7th Floor, ILD Trade CentreD1 Block, Malibu Town
Sector 47
Ludhiana, Haryana 122018