This presentation contains detailed knowledge about Down's Syndrome its types, clinical presentation, diagnosis, medical and physio therapeutic management of the condition.
Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.
NDT, BOBATH TECHNIQUE, BASIC IDEA OF BOBATH, CONCEPT OF BOBATH, NEUROPHYSIOLOGY OF NDT, ICF MODEL, PRINCIPLES OF TREATMENT OF NDT IN STROKE AND CP, AUTOMATIC AND EQUILIBRIUM REACTIONS, KEY POINTS OF CONTROL, FACILITATION, INHIBITION AND HANDLING IN NDT
Retraining of motor control basing on understanding of normal movement & analysis of motor dysfunction.
Emphasis of MRP is on practice of specific activities, the training of cognitive control over muscles & movt. Components of activities & conscious elimination of unnecessary muscle activity.
In rehabilitation programme involve – real life activities included.
NDT, BOBATH TECHNIQUE, BASIC IDEA OF BOBATH, CONCEPT OF BOBATH, NEUROPHYSIOLOGY OF NDT, ICF MODEL, PRINCIPLES OF TREATMENT OF NDT IN STROKE AND CP, AUTOMATIC AND EQUILIBRIUM REACTIONS, KEY POINTS OF CONTROL, FACILITATION, INHIBITION AND HANDLING IN NDT
Retraining of motor control basing on understanding of normal movement & analysis of motor dysfunction.
Emphasis of MRP is on practice of specific activities, the training of cognitive control over muscles & movt. Components of activities & conscious elimination of unnecessary muscle activity.
In rehabilitation programme involve – real life activities included.
This presentation give an upto date insightful information on balance/postural assessment and key domains of Occupational Therapy during assessment of balance using different scales.
At the end of the lecture, the students should be able to:
Discuss the theoretical basis of the neurodevelopmental approaches
Discuss the concepts and principles underlying the Bobath approach
Discuss the concepts and principles underlying the Brunnstrom approach
Hierachical theory- says that higher centers control on lower center; but when higher center damage then this inhibitory control from the higher center is loss which leads to exageration of the movt.
In normal individual, these occur a smooth, rhythmic movt. Because there is a presence of control from higher center on lower center.
Controlled use of sensory stimulus.
Specific Motor response
Normalization of muscle tone
Use of Developmental sequences.
Sensorimotor development = from lower to higher level.
Use of activity to demand a purposeful response.
Practice of sensory motor response is necessary for motor learning.
Vojta technique is neuromuscular approach deals with all the conditions of CNS and Musculoskeletal system.
Contents :
Introduction
Definition
What is REFLEX LOCOMOTION
Indication
Stimulating Points
Reflex locomotion
Reflex Rolling phase 1
Reflex Rolling phase 2
Reflex creeping
Effects of Vojta technique
Physiotherapy in MND
Dr. Quazi Ibtesaam Huma (MPT)
Dr. Suvarna Ganvir (Phd, Prof & HOD)
Dept. of Neurophysiotherapy
DVVPF’s College of Physiotherapy
Content
Introduction
Types of MND
Clinical Features of MND
Diagnostic Procedure
Management: 1) Pharmaceutical
2) Physiotherapy
Motor Neuron Disease
Motor Neuron Disease are a group of neurodegenerative disorders that affects the nerves in the spine and brain to progressively lose its function.
Motor neuron diseases (MND) include a heterogeneous spectrum of inherited and sporadic (no family history) clinical disorders of the upper motor neurons (UMNs), lower motor neurons (LMNs), or a combination of both.
Types of MND
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease, characterized by progressive degeneration of motor neurons in the spinal cord, brain stem, and motor cortex, leading to progressive muscle atrophy and weakness.
Clinical Features
UPPER MOTOR NEURON
Loss of Dexterity
Muscle Weakness
Spasticity
Hyperreflexia
Pathological reflexes
LOWER MOTOR NEURON
Muscle Weakness
Muscle Atrophy
Hypotonicity
Hyporeflexia
Fasciculation
Muscle Cramp
Impairment related to LMN
Other clinical features
Diagnostic Criteria
Diagnostic Procedure
EMG-
It include signs of active denervation, such as fibrillation potentials and positive sharp waves;
Signs of chronic denervation, such as large motor unit potentials (increased duration, increased proportion of polyphasic potentials, increased amplitude)
Unstable motor unit potential
Nerve Conduction Velocity Studies,
Muscle And Nerve Biopsies,
Neuroimaging Studies - MRI
Management- Multidisciplinary Approach
Physical Therapy Examination
Cognition
Pain
Psychosocial Function
Joint integrity, ROM and Muscle strength.
Motor Function: Gross motor and Fine motor
Muscle tone and reflexes
Cranial nerve integrity
Sensations
Gait
Respiratory Function
Physiotherapy goals in MND treatment.
Pain reduction
Prevention for contractures
Maintenance of joint mobility
Regular review of posture
Positioning to relieve discomfort
House Modification and ergonomic advice.
Management of Sialorrhea and Pseudobulbar Affect
Management for Dysphagia
PEG procedure.
A PEG may be recommended as the disease progresses.
A PEG is a type of gastrostomy tube inserted via endoscopic surgery that creates a permanent opening into the stomach for the introduction of food.
Studies have found that PEG insertion may prolong survival. Patients with PEG were found to live 1 to 4 months longer than those individuals who refused it.
Management of Dysphagia
A palatal lift prosthesis may be prescribed for individuals with good articulation but who have a breathy voice quality or decreased loudness because of excessive air loss through the nose.
The device, a dental appliance designed to attach to the existing teeth and to elevate the soft palate, is custom-made by a prosthodontist.
Its about the axillary nerve which can get damage or compress which leads to loss of the sensation in shoulder area.
It also affects the range of motion of the affected side .
This can be treated conservatively.
It is a well known fact that Down Syndrome is an incurable but proper medication can improve health condition and life expectancy. Down Syndrome article covers topics like Symptoms, Causes, Meaning, Facts, Types, About, Features, Information, Life expectancy, etc.
This presentation give an upto date insightful information on balance/postural assessment and key domains of Occupational Therapy during assessment of balance using different scales.
At the end of the lecture, the students should be able to:
Discuss the theoretical basis of the neurodevelopmental approaches
Discuss the concepts and principles underlying the Bobath approach
Discuss the concepts and principles underlying the Brunnstrom approach
Hierachical theory- says that higher centers control on lower center; but when higher center damage then this inhibitory control from the higher center is loss which leads to exageration of the movt.
In normal individual, these occur a smooth, rhythmic movt. Because there is a presence of control from higher center on lower center.
Controlled use of sensory stimulus.
Specific Motor response
Normalization of muscle tone
Use of Developmental sequences.
Sensorimotor development = from lower to higher level.
Use of activity to demand a purposeful response.
Practice of sensory motor response is necessary for motor learning.
Vojta technique is neuromuscular approach deals with all the conditions of CNS and Musculoskeletal system.
Contents :
Introduction
Definition
What is REFLEX LOCOMOTION
Indication
Stimulating Points
Reflex locomotion
Reflex Rolling phase 1
Reflex Rolling phase 2
Reflex creeping
Effects of Vojta technique
Physiotherapy in MND
Dr. Quazi Ibtesaam Huma (MPT)
Dr. Suvarna Ganvir (Phd, Prof & HOD)
Dept. of Neurophysiotherapy
DVVPF’s College of Physiotherapy
Content
Introduction
Types of MND
Clinical Features of MND
Diagnostic Procedure
Management: 1) Pharmaceutical
2) Physiotherapy
Motor Neuron Disease
Motor Neuron Disease are a group of neurodegenerative disorders that affects the nerves in the spine and brain to progressively lose its function.
Motor neuron diseases (MND) include a heterogeneous spectrum of inherited and sporadic (no family history) clinical disorders of the upper motor neurons (UMNs), lower motor neurons (LMNs), or a combination of both.
Types of MND
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease, characterized by progressive degeneration of motor neurons in the spinal cord, brain stem, and motor cortex, leading to progressive muscle atrophy and weakness.
Clinical Features
UPPER MOTOR NEURON
Loss of Dexterity
Muscle Weakness
Spasticity
Hyperreflexia
Pathological reflexes
LOWER MOTOR NEURON
Muscle Weakness
Muscle Atrophy
Hypotonicity
Hyporeflexia
Fasciculation
Muscle Cramp
Impairment related to LMN
Other clinical features
Diagnostic Criteria
Diagnostic Procedure
EMG-
It include signs of active denervation, such as fibrillation potentials and positive sharp waves;
Signs of chronic denervation, such as large motor unit potentials (increased duration, increased proportion of polyphasic potentials, increased amplitude)
Unstable motor unit potential
Nerve Conduction Velocity Studies,
Muscle And Nerve Biopsies,
Neuroimaging Studies - MRI
Management- Multidisciplinary Approach
Physical Therapy Examination
Cognition
Pain
Psychosocial Function
Joint integrity, ROM and Muscle strength.
Motor Function: Gross motor and Fine motor
Muscle tone and reflexes
Cranial nerve integrity
Sensations
Gait
Respiratory Function
Physiotherapy goals in MND treatment.
Pain reduction
Prevention for contractures
Maintenance of joint mobility
Regular review of posture
Positioning to relieve discomfort
House Modification and ergonomic advice.
Management of Sialorrhea and Pseudobulbar Affect
Management for Dysphagia
PEG procedure.
A PEG may be recommended as the disease progresses.
A PEG is a type of gastrostomy tube inserted via endoscopic surgery that creates a permanent opening into the stomach for the introduction of food.
Studies have found that PEG insertion may prolong survival. Patients with PEG were found to live 1 to 4 months longer than those individuals who refused it.
Management of Dysphagia
A palatal lift prosthesis may be prescribed for individuals with good articulation but who have a breathy voice quality or decreased loudness because of excessive air loss through the nose.
The device, a dental appliance designed to attach to the existing teeth and to elevate the soft palate, is custom-made by a prosthodontist.
Its about the axillary nerve which can get damage or compress which leads to loss of the sensation in shoulder area.
It also affects the range of motion of the affected side .
This can be treated conservatively.
It is a well known fact that Down Syndrome is an incurable but proper medication can improve health condition and life expectancy. Down Syndrome article covers topics like Symptoms, Causes, Meaning, Facts, Types, About, Features, Information, Life expectancy, etc.
Chromosomal Disorder or genetic disorder.pptxayeshaqueen8600
A chromosomal disorder is a genetic disorder that occurs when there is a change in the number or structure of an individual's chromosomes. Chromosomes are the thread-like structures that carry our genes, and changes in them can affect various aspects of our physical and mental development.
There are several types of chromosomal disorders, including:
1. Aneuploidy (e.g., Down syndrome, Turner syndrome): Having an abnormal number of chromosomes (either extra or missing).
2. Structural chromosomal abnormalities (e.g., deletions, duplications, translocations): Changes in the structure of individual chromosomes.
3. Mosaicism: A mix of cells with different chromosomal makeup.
Examples of chromosomal disorders include:
- Down syndrome (trisomy 21)
- Turner syndrome (45,X)
- Klinefelter syndrome (47,XXY)
- Edwards syndrome (trisomy 18)
- Patau syndrome (trisomy 13)
These disorders can cause a range of physical and intellectual disabilities, and often require medical attention and support.
a brief explanation about down syndrome's causes, symptoms, noticeable differences etc. with pictures of patients, ultrasounds for early diagnosis, for better understanding. Hopefully it will be helpful to all you medical students out there, and also people curious to know about this syndrome.
New Directions in Targeted Therapeutic Approaches for Older Adults With Mantl...i3 Health
i3 Health is pleased to make the speaker slides from this activity available for use as a non-accredited self-study or teaching resource.
This slide deck presented by Dr. Kami Maddocks, Professor-Clinical in the Division of Hematology and
Associate Division Director for Ambulatory Operations
The Ohio State University Comprehensive Cancer Center, will provide insight into new directions in targeted therapeutic approaches for older adults with mantle cell lymphoma.
STATEMENT OF NEED
Mantle cell lymphoma (MCL) is a rare, aggressive B-cell non-Hodgkin lymphoma (NHL) accounting for 5% to 7% of all lymphomas. Its prognosis ranges from indolent disease that does not require treatment for years to very aggressive disease, which is associated with poor survival (Silkenstedt et al, 2021). Typically, MCL is diagnosed at advanced stage and in older patients who cannot tolerate intensive therapy (NCCN, 2022). Although recent advances have slightly increased remission rates, recurrence and relapse remain very common, leading to a median overall survival between 3 and 6 years (LLS, 2021). Though there are several effective options, progress is still needed towards establishing an accepted frontline approach for MCL (Castellino et al, 2022). Treatment selection and management of MCL are complicated by the heterogeneity of prognosis, advanced age and comorbidities of patients, and lack of an established standard approach for treatment, making it vital that clinicians be familiar with the latest research and advances in this area. In this activity chaired by Michael Wang, MD, Professor in the Department of Lymphoma & Myeloma at MD Anderson Cancer Center, expert faculty will discuss prognostic factors informing treatment, the promising results of recent trials in new therapeutic approaches, and the implications of treatment resistance in therapeutic selection for MCL.
Target Audience
Hematology/oncology fellows, attending faculty, and other health care professionals involved in the treatment of patients with mantle cell lymphoma (MCL).
Learning Objectives
1.) Identify clinical and biological prognostic factors that can guide treatment decision making for older adults with MCL
2.) Evaluate emerging data on targeted therapeutic approaches for treatment-naive and relapsed/refractory MCL and their applicability to older adults
3.) Assess mechanisms of resistance to targeted therapies for MCL and their implications for treatment selection
These lecture slides, by Dr Sidra Arshad, offer a quick overview of physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar leads (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
Title: Sense of Taste
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
Dr. Vidisha Kumari, a leading epidemiologist in Bangalore, emphasizes the importance of getting vaccinated. "The flu vaccine is our best defense against the influenza virus. It not only protects individuals but also helps prevent the spread of the virus in our communities," he says.
This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
To encourage widespread vaccination, the government is also collaborating with local schools, workplaces, and community centers to facilitate vaccination drives. Special attention is being given to ensuring that the vaccine is accessible to all, including marginalized communities who may have limited access to healthcare.
Residents are reminded that the flu vaccine is safe and effective. Common side effects are mild and may include soreness at the injection site, mild fever, or muscle aches. These side effects are generally short-lived and far less severe than the flu itself.
Healthcare providers are also stressing the importance of continuing COVID-19 precautions. Wearing masks, practicing good hand hygiene, and maintaining social distancing are still crucial, especially in crowded places.
Protect yourself and your loved ones by getting vaccinated. Together, we can help keep Bangalore healthy and safe this flu season. For more information on vaccination centers and schedules, residents can visit the Karnataka Health Department’s official website or follow their social media pages.
Stay informed, stay safe, and get your flu shot today!
Prix Galien International 2024 Forum ProgramLevi Shapiro
June 20, 2024, Prix Galien International and Jerusalem Ethics Forum in ROME. Detailed agenda including panels:
- ADVANCES IN CARDIOLOGY: A NEW PARADIGM IS COMING
- WOMEN’S HEALTH: FERTILITY PRESERVATION
- WHAT’S NEW IN THE TREATMENT OF INFECTIOUS,
ONCOLOGICAL AND INFLAMMATORY SKIN DISEASES?
- ARTIFICIAL INTELLIGENCE AND ETHICS
- GENE THERAPY
- BEYOND BORDERS: GLOBAL INITIATIVES FOR DEMOCRATIZING LIFE SCIENCE TECHNOLOGIES AND PROMOTING ACCESS TO HEALTHCARE
- ETHICAL CHALLENGES IN LIFE SCIENCES
- Prix Galien International Awards Ceremony
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Ve...kevinkariuki227
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
Couples presenting to the infertility clinic- Do they really have infertility...Sujoy Dasgupta
Dr Sujoy Dasgupta presented the study on "Couples presenting to the infertility clinic- Do they really have infertility? – The unexplored stories of non-consummation" in the 13th Congress of the Asia Pacific Initiative on Reproduction (ASPIRE 2024) at Manila on 24 May, 2024.
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
Factory Supply Best Quality Pmk Oil CAS 28578–16–7 PMK Powder in Stockrebeccabio
Factory Supply Best Quality Pmk Oil CAS 28578–16–7 PMK Powder in Stock
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ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
2. Introduction
Named after a physician, “John Langdon
Down” in 18th century.
Down syndrome is the most common
chromosomal abnormality. The estimated
global incidence of this of this
chromosopathy is around 0.1% in live birth.
In 1959 a French doctor, named “Jerome
Lejeune” , discovered it was caused by the
inheritance of an extra chromosome 21.
3. It is an chromosomal disorder caused by an
error in cell division resulting in the presence
of an additional third chromosome 21 or 21
trisomy.
A ‘syndrome’ means a group of recognisable
characteristics occurring together. A
‘congenital’ syndrome is one present at birth.
Down syndrome is one of the most leading
causes of intellectual disability and various
health issues.
4.
5. Standard trisomy 21
In this type of aberration, the carrier has 47
chromosomes, including three chromosomes 21.
It accounts for nearly 90% to 95% of DS cases.
The majority of free trisomy 21 cases (85-90%)
originates from errors in maternal meiosis.
In particular, maternal meiosis I is the most
frequently affected stage of nondisjunction
(>75%), whereas maternal meiosis II errors
account for >20%.
In 5% of free trisomy 21, paternal meiotic errors
can be observed, here meiosis II nondisjunction is
more frequent than meiosis I errors.
6. Nondisjunction is the failureof homologous chromosomes or sister
chromatids to separate properlyduring cell division.
7.
8. Translocations
Translocation occurs before fertilisation
where a part of an extra copy of chromosome
21 breaks off during cell division and
becomes translocated (attached) to another
chromosome in the egg or sperm cell.
Affected individuals have two normal copies
of chromosome 21, in addition to an extra
attached chromosome 21.
9. DS due to translocation is the only variant
that occurs independent of maternal age and
may be inherited from either parent.
Approximately 4% of people with DS have
translocation,which may either be reciprocal
or Robertsonian.
Reciprocal translocations are the most
common type and involve an exchange of
chromosome between any of the different
types, for example, between chromosome 1
and chromosome 9.
12. Mosaic variant
The mosaic variant is the least common
pattern of transmission of DS, occurring in 1%
– 2% of people with DS, and the error in cell
division occurs after fertilisation.
Affected individuals have some cells with an
extra chromosome 21 and others with the
normal number, and this results in some body
cells containing 47 chromosomes and others
having the usual 46 chromosomes.
13. The greater the number of normal cells in DS,
the higher the chances of higher cognitive
functions, with a possibility of less intellectual
impairment.
14.
15.
16. Risk Factors
Advancing maternal age – usually women of
age 35 or above.
Mothers who already have child affected with
down syndrome.
Being carriers of the genetic translocation for
Down syndrome.
17.
18. Habitual risk factor
Maternal cigarette smoking
Use of oral contraceptive
Peri-conceptional alcohol consumption by
mother
Exposure to radiation
Low socio-economic status
19. Clinical Features
DS is a multisystem disorder that affects the
individual physically, medically and
psychologically.
These patients have a wide array of signs and
symptoms like –
intellectual and developmental disabilities or
neurological features
congenital heart defects
gastrointestinal (GI) abnormalities
characteristic facial features, and abnormalities.
20. Physical appearance
Brachycephaly (disproportionately shorter or
small head or skull shape)
Unusually round face
Short neck
Small ears
Flat nasal bridge
Microgenia (an abnormally small chin)
Macroglossia (protruding or oversized
tongue) due to small oral cavity, small chin.
21. Almond shape to the eyes caused by an
epicanthic fold of the eyelid and oblique
palpebral fissures.
Other features include shorter limbs
A single transverse palmar crease (a single
instead of a double crease across one or both
palms)
Lax ligaments, excessive space between
great toe and second toe
Dry skin, muscle hypotonia (poor muscle
tone) and brachydactyly (shorter fingers and
toes).
22.
23. Ocular and visual features
High refractive errors (when the eye cannot
clearly focus image from the outside world)
Amblyopia (lazy eye) and strabismus (crossed
eye)
Accommodative and vergence anomalies,
ptosis, blepharitis (eye lid inflammation),
nasolacrimal duct obstruction
Nystagmus
24. Keratoconus (conical cornea)
Brushfield’s spots(speckling of the iris)
Cataracts
Glaucoma and retinovascular anomalies
25.
26.
27.
28. Neurological disorders
Reduced brain volume especially
hippocampus and cerebellum
Hypotonia (defined as low resting muscle
tone, has been reported in nearly 80% of
new-borns with DS)
Because of hypotonia Down syndrome
patients have joint laxity that causes
decreased gait stability and increased energy
requirement for physical exertion.
Five percent to 13% of children with Down
syndrome have seizures
29. Forty percent of patients with Down
syndrome develop tonic - clonic or
myoclonic seizures in their first 3 decades.
Lennox - Gestaut syndrome is also seen to be
more prevalent in children with Down
syndrome.
Dementia occurs more commonly in patients
older than 45 years of age with Down
syndrome.
30. The risk of developing early-onset Alzheimer
disease is significantly high in patients with
Down syndrome with 50% to 70% of patients
developing dementia by the age of 60 years.
Nearly all the patients with Down syndrome
have mild to moderate learning disability.
33. Diagnosis
Screening and diagnostic tests.
The prenatal screenings do not give definite
results but provide the probability of a foetus
having DS
If screening test gives a positive finding for
DS, a pregnancy may have DS, a diagnostic
test is performed to confirm if the baby
actually has DS.
34. There are different methods used for the
prenatal diagnosis of Down syndrome.
Ultrasound between 14 and 24 weeks of
gestation
Amniocentesis and chorionic villus sampling
FISH(fluorescent in situ hybridization), QF-
PCR (quantitative fluorescence PCR), and
MLPA(multiplex probe ligation assay)- also
used for prenatal diagnosis.
35. A relatively new method called as Paralogue
Sequence Quantification (PSQ) uses the
paralogue sequence on Hsa21 copy number.
It is a PCR based method that uses the
paralogue genes to detect the targeted
chromosome number abnormalities which
are known as paralogue sequence
quantification.
36. There are non-invasive prenatal diagnostic
methods which are being studied to be used
for the diagnosis of Down
syndrome prenatally.
These are based on the presence of foetal
cells in the maternal blood and the presence
of cell-free foetal DNA in the maternal serum.
37. Few other recent methods like digital PCR
and next-generation sequencing (NGS) are
also being developed for the diagnosis of
Down syndrome
41. Management
The management of patients with Down
syndrome is multidisciplinary.
New-born with suspicion of Down syndrome,
should have a karyotyping done to confirm
the diagnosis.
The family needs to be referred to the clinical
geneticist for the genetic testing and
counselling of both the parents.
42. Parental education is one of the foremost
aspects regarding the management of Down
syndrome, as parents need to be aware of the
different possible conditions associated with
it so that they can be diagnosed and treated
appropriately.
Treatment is basically symtomatic and
complete recovery is not possible.
43. These patients should have their hearing and
vision assessed and as they are more prone to
have a cataract, therefore timely surgery is
required.
Thyroid function tests should be done on a
yearly basis and if deranged should be
managed accordingly.
44. A balanced diet, regular exercise, and physical
therapy are needed for the optimum growth and
weight gain, although feeding problems
do improve after the surgery.
Cardiac referral should be sent for all the
patients regardless of the clinical signs of
congenital heart disease which if present should
be corrected within the first 6 months of life to
ensure optimum growth and development of the
child.
45. Clinical geneticist - Referral to a genetics
counselling program is highly desirable
Developmental pediatrician
Cardiologist - Early cardiologic evaluation is
crucial for diagnosing and treating congenital
heart defects, which occur in as many as 60%
of these patients
Pediatric pneumonologist -Recurrent
respiratory tract infections are common in
patients with DS.
46. Ophthalmologist
Neurologist/Neurosurgeon – As many as 10%
of patients with DS have epilepsy; therefore,
neurologic evaluation may be needed
Orthopedic specialist
Child psychiatrist - A child psychiatrist should
lead liaison interventions, family therapies,
and psychometric evaluations
Physical and occupational therapist
Speech-language pathologist
Audiologist
47. Assessment
When recording history from parents, the
clinician should include the following
Parental concern about hearing, vision,
developmental delay, respiratory infections, and
other problems
Feeding history to ensure adequate caloric
intake
Prenatal diagnosis of Down syndrome
Vomiting secondary to GI tract blockage by
duodenal web or atresia (closed or absent orifice)
48. Absence of stools secondary to Hirschsprung
disease(nerve cells in the colon don’t form
completely).
Delay in cognitive abilities, motor development,
language development (specifically expressive
skills), and social competence
Arrhythmia, fainting episodes, palpitations, or
chest pain secondary to heart lesion
Symptoms of sleep apnea, including snoring,
restlessness during sleep, difficulty awaking,
daytime somnolence, behavioral changes, and
school problems
49. Symptoms of atlanto-axial instability include
the following:
About 13-14% of patients have radiographic
evidence of atlanto-axial instability but no
symptoms
Only 1-2% of patients have symptoms that
require treatment
Symptoms include easy fatigability, neck
pain, limited neck mobility or head tilt,
torticollis, difficulty walking, change in gait
pattern, loss of motor skills, incoordination,
clumsiness, sensory deficits, spasticity.
50. Hyperreflexia, clonus, extensor-plantar reflex,
loss of upper-body strength, abnormal
neurologic reflexes, change in bowel and
bladder function, increased muscle tone in
the legs, and changes in sensation in the
hands and feet
Physical Examination
Clinical Features
51. Assessment tools
Test of infant motor performance
Alberta infant motor scales
Peabody development scales
Gross Motor Function Measure
Pediatric Evaluation of Disability Index
Pediatric Balance Scale
54. Some of the common issues that
physiotherapists will address are:
Delayed developmental milestones
Impaired Balance
Decreased strength
Reduced levels of physical activity
Sensory Deficits
Reduced mental health and emotional well-
being
55. Major Goal
The general goal is to maintain alignment
and encourage normal movement forces to
promote optimal biomechanical forces for
best musculoskeletal development and
prevention of anticipated malalignment and
instabilities.
56. Learning Differences
Generally, children with intellectual disabilities
such as Down syndrome have been found to:
Be capable of learning
Benefit from frequent repetitions in order to
learn
Have difficulty generalizing skill
Need more frequent practice sessions in order to
maintain learned skills
Need extended time to respond, and
Have a more limited repertoire of responses
57. Intervention must include an understanding
from a functional, dynamic systems perspective
The general goal is to anticipate gross and fine
motor delay and provide interventions to
minimize it by:
Teaching the caregivers appropriate positioning
and handling activities to use throughout early
infancy and childhood to promote antigravity
control and weight bearing.
58. Designing activities to encourage the
development of antigravity muscle strength
in all positions,
Emphasizing trunk extension and extremity
loading, which tend to increase axial muscle
tone,
Encouraging the emergence of righting and
postural reactions through use of rotation
within and during movement,
Encouraging dynamic rather than static
exploration of movement,
59. Facilitating the emergence of developmental
milestones when chronologically appropriate,
including supported sitting and standing,
when trunk control and alignment are able to
be established
Anticipating the delay in postural control
responses and providing functional
opportunities to enhance development in
areas of cognition, language, and
socialization,
60. Teaching parents and other team members
activities and position choices that will
enhance the child’s overall development.
Suggestions include:
Use of aligned compression or weight-
bearing forces to stimulate longitudinal bone
growth as well as thickness and density of the
bone and shaft.
61. Aligned, supported weight bearing to
promote joint stability.
Facilitation of muscular co-contraction, force
production, and increased muscle tone.
Therapists should avoid exaggerated neck
flexion, extension, rotation, and positions or
movements that may cause twisting or undue
forces.
62. With caution, joint approximation or
compression of the cervical spine should be
performed gently but these activities are
contraindicated in children with identified
atlantoaxial instability.
Extreme caution must be taken, and any
activity that may result in cervical spine injury
should be avoided.
63. Motor Learning Considerations
Reduce hands-on support when safe, to avoid
dependence.
Practice new skill in new environment.
Provide visual and tactile cues.
66. Neuro Developmental
Technique
NDT is an approach which focuses on the
quality of movement and coordination rather
than individual muscle group function
This hands-on approach is achieved by the
physiotherapist having several ‘key points of
control’, including the head, shoulders, trunk
and/or pelvis to guide and alter movement
69. Perceptual Motor Training
PMT incorporates activities which help to
explore balance, coordination and body
awareness and is not skills-based.
So, rather than being taught a certain skill,
individuals are provided with an environment
in which to explore and determine what their
bodies can do