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AN OVERVIEW ON PROGERIA: A RARE DISEASE OF CHILD
AN OVERVIEW ON PROGERIA: A RARE DISEASE OF CHILD
Kamal Singh Rathore, Sunita P., Khushboo Sharma, R.K.Nema
Progeria is a rare disease, fatal genetic condition that produces rapid aging, beginning in childhood also known as “Hutchinson–Gilford progeria syndrome” or “HGPS” and “Hutchinson–Gilford syndrome” wherein symptoms resembling aspects of aging are manifested at an early age. Progeria was first described in an academic journal by Dr. Jonathan Hutchinson in 1886, and Dr. Hastings Gilford in 1897 – both in England.
Its name is derived from the Greek and means “prematurely old.” Approximately 1 in 4000000 people are diagnosed with this condition. Those born with progeria typically live about 13-20 years, It is a genetic condition that occurs as a new mutation and is not usually inherited, although there is a uniquely inheritable form. This is in contrast to another rare but similar premature aging syndrome, dyskeratosis congenita (DKC), which is inheritable and will often be expressed multiple times in a family line.
Although they are born looking healthy, children with Progeria begin to display many characteristics of accelerated aging at around 18-24 months of age. Progeria signs include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke. The children have a remarkably similar appearance, despite differing ethnic background. Children with Progeria die of atherosclerosis (heart disease) at an average age of thirteen years (with a range of about 8 – 21 years). According to Hayley’s Page “At present there are 53 known cases of Progeria around the world and only 2 in the UK”. There is a reported incidence of Progeria of approximately 1 in every 4 to 8 million newborns. Both boys and girls run an equal risk of having Progeria.
Symptoms
Progeria is a progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life. The condition is rare; since 1886, only about 130 cases of progeria have been documented in the scientific literature. Usually within the first year of life, growth of a child with progeria slows markedly so that height and weight fall below average for his or her age, and weight falls low for height. Motor development and mental development remain normal.
Signs and symptoms of this progressive disorder include:
Causes
Progeria usually occurs without cause – it is not seen in siblings of affected children. In extremely rare cases more than one child in the same family may have the condition.
It is only very rarely seen in more than one child in a family. Progeria is a childhood disorder caused by a point mutation in position 1824 of the LMNA gene (Lamin A), replacing cytosine with thymine, creating an unusable form of the protein Lamin A. Lamin A is part of the building blocks of the nuclear envelope. 90% of children with progeria have a mutation on the gene that encodes the protein lamin A. a protein that holds the nucleus of the cell together. It is believed that the defective Lamin A protein makes the nucleus unstable. This instability seems to lead to the process of premature aging among Progeria patients.
Diagnosis
Diagnosis is suspected according to signs and symptoms, such as skin changes, abnormal growth, and loss of hair. It can be confirmed through a genetic test. The health care professional will possibly suspect Progeria if the signs and symptoms are there – aging skin, loss of hair, stiffness of joints, etc. This can then be confirmed through a genetic test. The Progeria Research Foundation has created a Diagnostic Testing Program.
No diagnostic test confirms progeria. Doctors typically make a diagnosis based on signs and symptoms, such as failure to grow and hair loss, which typically aren’t fully evident until your child is nearly 2. However, with the discovery of the genetic mutation that causes progeria, it’s possible to use genetic testing for LMNA mutations at the first suspicion of progeria. The sooner you know your child has progeria, the sooner your doctor can recommend treatments that may help ease the signs and symptoms of the disorder.
A blood test may reveal that your child has a low level of high-density lipoprotein (HDL) cholesterol, the so-called good cholesterol that helps keep arteries open. This laboratory finding isn’t diagnostic by itself, but may lend support to a diagnosis of progeria.
Treatment
No treatments have been proven effective.
Prognosis
There is no known cure. Few people with progeria exceed 13 years of age. At least 90% of patients die from complications of atherosclerosis, such as heart attack or stroke.
Mental development is not affected. The development of symptoms is comparable to aging at a rate six to eight times faster than normal, although certain age-related conditions do not occur. Specifically, patients show no neurodegeneration or cancer predisposition. They do not develop physically mediated “wear and tear” conditions commonly associated with aging, like cataracts (caused by UV exposure) and osteoarthritis (caused by mechanical wear).
Epidemiology
Classical Hutchinson-Gilford Progeria Syndrome is almost never passed on from parent to child. It is usually caused by a new (sporadic) mutation during the early division of the cells in the child. It is usually genetically dominant; therefore, parents who are healthy will normally not pass it on to their children. Affected children rarely live long enough to have children themselves.
Research indicates that a chemical (hyaluronic acid) may be found in greatly elevated levels in the urine of Hutchinson-Gilford Progeria Syndrome patients. The same abnormality has been found in Werner Syndrome, which is sometimes called ‘progeria of the adult’.
Lamin A
Nuclear lamin A is a protein scaffold on the inner edge of the nucleus that helps organize nuclear processes such as RNA and DNA synthesis.
Prelamin A contains a CAAX box at the C-terminus of the protein (where C is a cysteine and A is any aliphatic amino acids). This ensures that the cysteine is farnesylated and allows prelamin A to bind membranes, specifically the nuclear membrane. After prelamin A has been localized to the cell nuclear membrane, the C-terminal amino acids, including the farnesylated cysteine, are cleaved off by a specific protease. The resulting protein is now lamin A, is no longer membrane-bound, and carries out functions inside the nucleus.
In 2003, NHGRI researchers, together with colleagues at the Progeria Research Foundation, the New York State Institute for Basic Research in Developmental Disabilities, and the University of Michigan, discovered that Hutchinson-Gilford progeria is caused by a tiny, point mutation in a single gene, known as lamin A (LMNA). Parents and siblings of children with progeria are virtually never affected by the disease. In accordance with this clinical observation, the genetic mutation appears in nearly all instances to occur in the sperm prior to conception. It is remarkable that nearly all cases are found to arise from the substitution of just one base pair among the approximately 25,000 DNA base pairs that make up the LMNA gene. The LMNA gene codes for two proteins, lamin A and lamin C, that are known to play a key role in stabilizing the inner membrane of the cell’s nucleus. In laboratory tests involving cells taken from progeria patients, researchers have found that the mutation responsible for Hutchinson-Gilford progeria causes the LMNA gene to produce an abnormal form of the lamin A protein. That abnormal protein appears to destabilize the cell’s nuclear membrane in a way that may be particularly harmful to tissues routinely subjected to intense physical force, such as the cardiovascular and musculoskeletal systems. Interestingly, different mutations in the same LMNA gene have been shown to be responsible for at least a half-dozen other genetic disorders, including two rare forms of muscular dystrophy. In addition to its implications for diagnosis and possible treatment of progeria, the discovery of the underlying genetics of this model of premature aging may help to shed new light on humans’ normal aging process.
Possible Complications
Heart attack (myocardial infarction)
Stroke
How we can help children with Progeria?
Care, Coping and support
Helping the child to cope
Conclusion and General Discussion
Progeria, or Hutchinson-Gilford progeria syndrome, is a rare, fatal, genetic condition of childhood with striking features resembling premature aging. Children with progeria usually have a normal appearance in early infancy. At approximately nine to 24 months of age, affected children begin to experience profound growth delays, resulting in short stature and low weight. They also develop a distinctive facial appearance characterized by a disproportionately small face in comparison to the head; an underdeveloped jaw (micrognathia); malformation and crowding of the teeth; abnormally prominent eyes; a small, nose; prominent eyes and a subtle blueness around the mouth. In addition, by the second year of life, the scalp hair, eyebrows, and eyelashes are lost (alopecia), and the scalp hair may be replaced by small, downy, white or blond hairs. Additional characteristic features include generalized atherosclerosis, cardiovascular disease and stroke, hip dislocations, unusually prominent veins of the scalp, loss of the layer of fat beneath the skin (subcutaneous adipose tissue), defects of the nails, joint stiffness, skeletal defects, and/or other abnormalities. According to reports in the medical literature, individuals with Hutchinson-Gilford progeria syndrome develop premature, widespread thickening and loss of elasticity of artery walls (arteriosclerosis), which result in life-threatening complications during childhood, adolescence, or early adulthood. Children with progeria die of heart disease (atherosclerosis) at an average age of 13 years, with a range of about eight to 21 years.
Progeria is caused by a mutation of the gene LMNA, or lamin A. The lamin A protein is the scaffolding that holds the nucleus of a cell together. Researchers now believe that the defective lamin A protein makes the nucleus unstable. That cellular instability appears to lead to the process of premature aging in progeria. Because neither parent carries or expresses the mutation, each case is believed to represent a sporadic, new mutation that happens most notably in a single sperm or egg immediately prior to conception.
REFERENCES
Support Groups
Progeria Research Foundation, Inc. – www.progeriaresearch.org
Tags: cardiovascular heart disease, dr jonathan, gilford progeria syndrome, growth failure, hgps, hip dislocation, hutchinson gilford progeria, hutchinson gilford progeria syndrome, kamal singh, khushbooKamal Singh Rathore, Sunita P., Khushboo Sharma, R.K.Nema
Progeria is a rare disease, fatal genetic condition that produces rapid aging, beginning in childhood also known as “Hutchinson–Gilford progeria syndrome” or “HGPS” and “Hutchinson–Gilford syndrome” wherein symptoms resembling aspects of aging are manifested at an early age. Progeria was first described in an academic journal by Dr. Jonathan Hutchinson in 1886, and Dr. Hastings Gilford in 1897 – both in England.
Its name is derived from the Greek and means “prematurely old.” Approximately 1 in 4000000 people are diagnosed with this condition. Those born with progeria typically live about 13-20 years, It is a genetic condition that occurs as a new mutation and is not usually inherited, although there is a uniquely inheritable form. This is in contrast to another rare but similar premature aging syndrome, dyskeratosis congenita (DKC), which is inheritable and will often be expressed multiple times in a family line.
Although they are born looking healthy, children with Progeria begin to display many characteristics of accelerated aging at around 18-24 months of age. Progeria signs include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke. The children have a remarkably similar appearance, despite differing ethnic background. Children with Progeria die of atherosclerosis (heart disease) at an average age of thirteen years (with a range of about 8 – 21 years). According to Hayley’s Page “At present there are 53 known cases of Progeria around the world and only 2 in the UK”. There is a reported incidence of Progeria of approximately 1 in every 4 to 8 million newborns. Both boys and girls run an equal risk of having Progeria.
Symptoms
Progeria is a progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life. The condition is rare; since 1886, only about 130 cases of progeria have been documented in the scientific literature. Usually within the first year of life, growth of a child with progeria slows markedly so that height and weight fall below average for his or her age, and weight falls low for height. Motor development and mental development remain normal.
Signs and symptoms of this progressive disorder include:
Causes
Progeria usually occurs without cause – it is not seen in siblings of affected children. In extremely rare cases more than one child in the same family may have the condition.
It is only very rarely seen in more than one child in a family. Progeria is a childhood disorder caused by a point mutation in position 1824 of the LMNA gene (Lamin A), replacing cytosine with thymine, creating an unusable form of the protein Lamin A. Lamin A is part of the building blocks of the nuclear envelope. 90% of children with progeria have a mutation on the gene that encodes the protein lamin A. a protein that holds the nucleus of the cell together. It is believed that the defective Lamin A protein makes the nucleus unstable. This instability seems to lead to the process of premature aging among Progeria patients.
Diagnosis
Diagnosis is suspected according to signs and symptoms, such as skin changes, abnormal growth, and loss of hair. It can be confirmed through a genetic test. The health care professional will possibly suspect Progeria if the signs and symptoms are there – aging skin, loss of hair, stiffness of joints, etc. This can then be confirmed through a genetic test. The Progeria Research Foundation has created a Diagnostic Testing Program.
No diagnostic test confirms progeria. Doctors typically make a diagnosis based on signs and symptoms, such as failure to grow and hair loss, which typically aren’t fully evident until your child is nearly 2. However, with the discovery of the genetic mutation that causes progeria, it’s possible to use genetic testing for LMNA mutations at the first suspicion of progeria. The sooner you know your child has progeria, the sooner your doctor can recommend treatments that may help ease the signs and symptoms of the disorder.
A blood test may reveal that your child has a low level of high-density lipoprotein (HDL) cholesterol, the so-called good cholesterol that helps keep arteries open. This laboratory finding isn’t diagnostic by itself, but may lend support to a diagnosis of progeria.
Treatment
No treatments have been proven effective.
Prognosis
There is no known cure. Few people with progeria exceed 13 years of age. At least 90% of patients die from complications of atherosclerosis, such as heart attack or stroke.
Mental development is not affected. The development of symptoms is comparable to aging at a rate six to eight times faster than normal, although certain age-related conditions do not occur. Specifically, patients show no neurodegeneration or cancer predisposition. They do not develop physically mediated “wear and tear” conditions commonly associated with aging, like cataracts (caused by UV exposure) and osteoarthritis (caused by mechanical wear).
Epidemiology
Classical Hutchinson-Gilford Progeria Syndrome is almost never passed on from parent to child. It is usually caused by a new (sporadic) mutation during the early division of the cells in the child. It is usually genetically dominant; therefore, parents who are healthy will normally not pass it on to their children. Affected children rarely live long enough to have children themselves.
Research indicates that a chemical (hyaluronic acid) may be found in greatly elevated levels in the urine of Hutchinson-Gilford Progeria Syndrome patients. The same abnormality has been found in Werner Syndrome, which is sometimes called ‘progeria of the adult’.
Lamin A
Nuclear lamin A is a protein scaffold on the inner edge of the nucleus that helps organize nuclear processes such as RNA and DNA synthesis.
Prelamin A contains a CAAX box at the C-terminus of the protein (where C is a cysteine and A is any aliphatic amino acids). This ensures that the cysteine is farnesylated and allows prelamin A to bind membranes, specifically the nuclear membrane. After prelamin A has been localized to the cell nuclear membrane, the C-terminal amino acids, including the farnesylated cysteine, are cleaved off by a specific protease. The resulting protein is now lamin A, is no longer membrane-bound, and carries out functions inside the nucleus.
In 2003, NHGRI researchers, together with colleagues at the Progeria Research Foundation, the New York State Institute for Basic Research in Developmental Disabilities, and the University of Michigan, discovered that Hutchinson-Gilford progeria is caused by a tiny, point mutation in a single gene, known as lamin A (LMNA). Parents and siblings of children with progeria are virtually never affected by the disease. In accordance with this clinical observation, the genetic mutation appears in nearly all instances to occur in the sperm prior to conception. It is remarkable that nearly all cases are found to arise from the substitution of just one base pair among the approximately 25,000 DNA base pairs that make up the LMNA gene. The LMNA gene codes for two proteins, lamin A and lamin C, that are known to play a key role in stabilizing the inner membrane of the cell’s nucleus. In laboratory tests involving cells taken from progeria patients, researchers have found that the mutation responsible for Hutchinson-Gilford progeria causes the LMNA gene to produce an abnormal form of the lamin A protein. That abnormal protein appears to destabilize the cell’s nuclear membrane in a way that may be particularly harmful to tissues routinely subjected to intense physical force, such as the cardiovascular and musculoskeletal systems. Interestingly, different mutations in the same LMNA gene have been shown to be responsible for at least a half-dozen other genetic disorders, including two rare forms of muscular dystrophy. In addition to its implications for diagnosis and possible treatment of progeria, the discovery of the underlying genetics of this model of premature aging may help to shed new light on humans’ normal aging process.
Possible Complications
Heart attack (myocardial infarction)
Stroke
How we can help children with Progeria?
Care, Coping and support
Helping the child to cope
Conclusion and General Discussion
Progeria, or Hutchinson-Gilford progeria syndrome, is a rare, fatal, genetic condition of childhood with striking features resembling premature aging. Children with progeria usually have a normal appearance in early infancy. At approximately nine to 24 months of age, affected children begin to experience profound growth delays, resulting in short stature and low weight. They also develop a distinctive facial appearance characterized by a disproportionately small face in comparison to the head; an underdeveloped jaw (micrognathia); malformation and crowding of the teeth; abnormally prominent eyes; a small, nose; prominent eyes and a subtle blueness around the mouth. In addition, by the second year of life, the scalp hair, eyebrows, and eyelashes are lost (alopecia), and the scalp hair may be replaced by small, downy, white or blond hairs. Additional characteristic features include generalized atherosclerosis, cardiovascular disease and stroke, hip dislocations, unusually prominent veins of the scalp, loss of the layer of fat beneath the skin (subcutaneous adipose tissue), defects of the nails, joint stiffness, skeletal defects, and/or other abnormalities. According to reports in the medical literature, individuals with Hutchinson-Gilford progeria syndrome develop premature, widespread thickening and loss of elasticity of artery walls (arteriosclerosis), which result in life-threatening complications during childhood, adolescence, or early adulthood. Children with progeria die of heart disease (atherosclerosis) at an average age of 13 years, with a range of about eight to 21 years.
Progeria is caused by a mutation of the gene LMNA, or lamin A. The lamin A protein is the scaffolding that holds the nucleus of a cell together. Researchers now believe that the defective lamin A protein makes the nucleus unstable. That cellular instability appears to lead to the process of premature aging in progeria. Because neither parent carries or expresses the mutation, each case is believed to represent a sporadic, new mutation that happens most notably in a single sperm or egg immediately prior to conception.
REFERENCES
Support Groups
Progeria Research Foundation, Inc. – www.progeriaresearch.org
Healthcare Providers Policy Planning:The Four Quadrant Model
The NCCBH proposed model for the clinical integration of health and behavioral health services starts with a description of the populations to be served. This Four Quadrant Model builds on the 1998 consensus document for mental health (MH) and substance abuse/addiction (SA) service integration, as initially conceived by state mental health and substance abuse directors (NASHMHPD/ NASADAD) and further articulated by Ken Minkoff and his colleagues.
This model for a Comprehensive, Continuous, Integrated System of Care (CCISC) describes differing levels of MH and SA integration and clinician competencies based on the four-quadrant model, divided into severity for each disorder:
Quadrant I: Low MH-low SA, served in primary care
Quadrant II: High MH-low SA, served in the MH system by staff who have SA competency
Quadrant III: Low MH- high SA, served in the SA system by staff who have MH competency
Quadrant IV: High MH-high SA, served by a fully integrated MH/SA program
The Four Quadrant Clinical Integration Model
Behavioral Health Risk/Status
Quadrant I
PCP (with standard screening tools and BH practice guidelines)
PCP-based BH*
Quadrant II
Case Manager w/ responsibility for coordination w/ PCP
PCP (with standard screening tools and BH practice guidelines)
Specialty BH
Residential BH
Crisis/ER
Behavioral Health IP
Other community supports
Quadrant III
PCP (with standard screening tools and BH practice guidelines)
Care/Disease Manager
Specialty medical/surgical
PCP-based BH (or in specific specialties)*
ER
Medical/surgical IP
SNF/home based care
Other community supports
Physical Health Risk/Status
Quadrant IV
PCP (with standard screening tools and BH practice guidelines)
BH Case Manager w/ responsibility for coordination w/ PCP and Disease Manager
Care/Disease Manager
Specialty medical/surgical
Specialty BH
Residential BH
Crisis/ ER
BH and medical/surgical IP
Other community supports
*PCP-based BH provider might work for the PCP organization, a specialty BH provider, or as an individual practitioner, is competent in both MH and SA assessment and treatment
Stable SPMI would be served in either setting. Plan for and deliver services based upon the needs of the individual, consumer choice and the specifics of the community and collaboration.
The Behavioral Health / Primary Care integration model above assumes this competency-based MH/SA integration concept within the behavioral health (BH) services offered and builds on the MH/SA integration model to describe the subsets of the population that Behavioral Health/ Primary Care integration must address.
Each quadrant considers the behavioral health and physical health risk and complexity of the population and suggests the major system elements that would be utilized to meet the needs of the individuals within that subset of the population.
The Four Quadrant model is not intended to be prescriptive about what happens in each quadrant, but to serve as a conceptual framework for collaborative planning in each local system. Ideally it would be used as a part of collaborative planning for each new HRSA BH site, with the CHC and the local provider(s) of public BH services using the framework to decide who will do what and how coordination for each person served will be assured.
The use of the Four Quadrant Model to consider subsets of the population, the major system elements and clinical roles would result in the following broad approaches:
QUADRANT I
Low BH-low physical health complexity/risk, served in primary care with BH staff on site; very low/low individuals served by the PCP, with the BH staff serving those with slightly elevated health or BH risk.
The PCP provides primary care services and uses standard BH screening tools and practice guidelines to serve most individuals in the primary care practice.
Use of standardized BH tools by the PCP and a tracking/registry system focuses referrals of a subset of the population to the BH clinician. The role of the primary care based BH clinician is to provide formal and informal consultation to the PCP as well as to provide BH triage and assessment, brief treatment services to the patient, referral to community and educational resources, and health risk education.
BH clinical and support services may include individual or group services, use of cognitive behavioral therapy, psycho-education, brief SA intervention, and limited case management. The BH clinician must be competent in both MH and SA assessment and service planning.
The PCP prescribes psychotropic medications using treatment algorithms and has access to psychiatric consultation regarding medication management.
The consumer of care, by seeking care in primary care, has selected a clinical home. Consistent with appropriate clinical practice, that should be honored. The primary care and specialty BH system should develop protocols, however, that spell out how acute behavioral health episodes or high-risk consumers will be handled.
This will also lead to clarity regarding the clinical home of consumers with SPMI who are currently stable, which should be based upon consumer choice and the specifics of the community collaboration.
QUADRANT II
High BH-low physical health complexity/risk, served in a specialty BH system that coordinates with the PCP.
The PCP provides primary care services and collaborates with the specialty BH providers to assure coordinated care for individuals.
Psychiatric consultation for the PCP may be an element in these complex BH situations, but it more likely that psychotropic medication management will be handled by the specialty BH system. The role of the specialty BH clinician is to provide BH assessment, arrange for or deliver specialty BH services, assure case management related to housing and other community supports, assure that the consumer has access to health care, and create a primary care communication approach (e.g., e-mail, v-mail, face to face) that assures coordinated service planning, especially in regard to medication management.
Specialty BH clinical and support services will vary based upon state and county level planning and financing; some localities may encompass the full range of services offered by specialty BH systems including:
Specialty MH Services
Crisis respite facilities
24/7 crisis telephone
Crisis residential facilities
Mobile crisis team
Crisis observation 23 hour beds
Urgent care walk in clinic
Locked sub-acute residential
Inpatient (voluntary and involuntary)
Dual diagnosis inpatient
Hospital discharge planning
Partial hospitalization
In-home stabilization
Outreach to homeless shelters
Outreach to jail/corrections
Outreach to other special populations
Individual/family treatment /counseling
Group treatment/counseling
Dual diagnosis treatment groups
Multifamily groups
Psychiatric evaluation/consultation
Psychiatric prescribing/management
Advice nurse (medication issues)
Psychological testing
Services for homebound frail or disabled
Specialized services for older adults
Brokerage case management
24/7 intensive home /community case management (ACT teams)
School-based assessment and treatment
Supported classroom
Stabilization classroom
Day treatment (adult, adolescent, child)
Supported employment /supported education
Transitional services for young adults
Individual skill building /coaching
Intensive peer support
After school structured services
Summer daily structure and support
Specialty SA Services
Sobering sites
Social detoxification/residential
Outpatient medical detoxification
Inpatient medical detoxification
Pre-treatment groups
Intensive outpatient treatment
Outpatient treatment
Day treatment
Aftercare/12 step groups
Narcotic replacement treatment
Residential Services
Boarding homes
Adult residential treatment
Child/adolescent residential treatment
Transitional housing
Adult family homes
Treatment foster care
Low income housing (dedicated to BH consumers)
Supports for SPMI / SED Populations
Representative payee/financial services
Time limited transitional groups
Parent support groups
Youth support groups
Dual diagnosis education/support groups
Caregiver/family support groups
Youth after school normalizing activities
Youth tutors/mentors
The BH clinician must be competent in both MH and SA assessment and service planning. A specific standard of practice should be adopted that defines the methods and frequency of communication with PCPs. Note that this quadrant is where most public sector BH consumers currently can be found.
QUADRANT III
Low BH-high physical health complexity/risk, served in the primary care/medical specialty system with BH staff on site in primary or medical specialty care, coordinating with all medical care providers including disease managers.
The PCP provides primary care services, works with medical specialty providers and disease managers (e.g. diabetes, asthma) to manage the physical health issues of the individual and uses standard BH screening tools and practice guidelines to serve most individuals in the primary care practice.
Use of standardized BH tools by the PCP and a tracking/registry system focuses referrals of a subset of the population to the BH clinician. The role of the primary care or medical specialty based BH clinician is to provide BH triage and assessment, consultation to the PCP or treatment services to the patient, referral to community and educational resources, and health risk education.
BH clinical and support services may include individual or group services, use of cognitive behavioral therapy, psycho-education, brief SA intervention, and limited case management. The BH clinician must be competent in both MH and SA assessment and service planning. The PCP prescribes psychotropic medications using treatment algorithms and has access to psychiatric consultation regarding medication management.
Depending on the setting, the BH clinician may also serve as a health educator regarding lifestyle and chronic health conditions found in the general public (diabetes, asthma) or conditions found in at-risk populations (Hepatitis C, HIV). T
These population-based services, as articulated by Bob Dyer, would include: patient education, activity planning; prompting; skill assessment; skill building; and, mutual support.iii In addition to these disease management services, the BH clinician might serve as a physician extender, supporting efficient use of physician time by problem solving with acute or chronic patients, as well as working with patients on medication compliance issues.
Specialty healthcare and disease management programs could also integrate depression screening into a wide array of self management and rehabilitation programs, building on current research findings regarding the frequency and impact of depression in cardiovascular or diabetes populations.
QUADRANT IV
High BH-high physical health complexity/risk, served in both the specialty BH and primary care/medical specialty systems; in addition to the BH case manager, there may be a disease manager, in which case the two managers work at a high level of coordination with one another and other members of the team.
The PCP works with medical specialty providers and disease managers (e.g. diabetes, asthma) to manage the physical health issues of the individual, while collaborating with the BH system in the planning and delivery of BH clinical and support services, which include those listed in Quadrant II.
Psychiatric consultation is a key element in these most complex situations. The role of the specialty BH clinician is to provide BH assessment, arrange for or deliver specialty BH services, assure case management related to housing and other community supports, and collaborate at a high level with the healthcare system team. The BH clinician must be competent in both MH and SA assessment and service planning.
In some settings, BH services may be integrated with specialty provider teams (for example, Kaiser has BH clinicians in OB/GYN working with substance abusing pregnant women). With the extension of disease management programs into Medicaid health plans, there is the likelihood of coordinating with disease managers in addition to healthcare providers.
The BH clinician and disease manager should assure they are not duplicating tasks, but working together to support the needs of the consumer. A specific standard of practice should be adopted that defines the methods and frequency of communication.
Tags: behavioral health services, clinical integration, consensus document, mh system, nasadad, quadrant ii, risk status, screening tools, state mental health, substance abuse addictionThis model for a Comprehensive, Continuous, Integrated System of Care (CCISC) describes differing levels of MH and SA integration and clinician competencies based on the four-quadrant model, divided into severity for each disorder:
Quadrant I: Low MH-low SA, served in primary care
Quadrant II: High MH-low SA, served in the MH system by staff who have SA competency
Quadrant III: Low MH- high SA, served in the SA system by staff who have MH competency
Quadrant IV: High MH-high SA, served by a fully integrated MH/SA program
The Four Quadrant Clinical Integration Model
Behavioral Health Risk/Status
Quadrant I
PCP (with standard screening tools and BH practice guidelines)
PCP-based BH*
Quadrant II
Case Manager w/ responsibility for coordination w/ PCP
PCP (with standard screening tools and BH practice guidelines)
Specialty BH
Residential BH
Crisis/ER
Behavioral Health IP
Other community supports
Quadrant III
PCP (with standard screening tools and BH practice guidelines)
Care/Disease Manager
Specialty medical/surgical
PCP-based BH (or in specific specialties)*
ER
Medical/surgical IP
SNF/home based care
Other community supports
Physical Health Risk/Status
Quadrant IV
PCP (with standard screening tools and BH practice guidelines)
BH Case Manager w/ responsibility for coordination w/ PCP and Disease Manager
Care/Disease Manager
Specialty medical/surgical
Specialty BH
Residential BH
Crisis/ ER
BH and medical/surgical IP
Other community supports
*PCP-based BH provider might work for the PCP organization, a specialty BH provider, or as an individual practitioner, is competent in both MH and SA assessment and treatment
Stable SPMI would be served in either setting. Plan for and deliver services based upon the needs of the individual, consumer choice and the specifics of the community and collaboration.
The Behavioral Health / Primary Care integration model above assumes this competency-based MH/SA integration concept within the behavioral health (BH) services offered and builds on the MH/SA integration model to describe the subsets of the population that Behavioral Health/ Primary Care integration must address.
Each quadrant considers the behavioral health and physical health risk and complexity of the population and suggests the major system elements that would be utilized to meet the needs of the individuals within that subset of the population.
The Four Quadrant model is not intended to be prescriptive about what happens in each quadrant, but to serve as a conceptual framework for collaborative planning in each local system. Ideally it would be used as a part of collaborative planning for each new HRSA BH site, with the CHC and the local provider(s) of public BH services using the framework to decide who will do what and how coordination for each person served will be assured.
The use of the Four Quadrant Model to consider subsets of the population, the major system elements and clinical roles would result in the following broad approaches:
QUADRANT I
Low BH-low physical health complexity/risk, served in primary care with BH staff on site; very low/low individuals served by the PCP, with the BH staff serving those with slightly elevated health or BH risk.
The PCP provides primary care services and uses standard BH screening tools and practice guidelines to serve most individuals in the primary care practice.
Use of standardized BH tools by the PCP and a tracking/registry system focuses referrals of a subset of the population to the BH clinician. The role of the primary care based BH clinician is to provide formal and informal consultation to the PCP as well as to provide BH triage and assessment, brief treatment services to the patient, referral to community and educational resources, and health risk education.
BH clinical and support services may include individual or group services, use of cognitive behavioral therapy, psycho-education, brief SA intervention, and limited case management. The BH clinician must be competent in both MH and SA assessment and service planning.
The PCP prescribes psychotropic medications using treatment algorithms and has access to psychiatric consultation regarding medication management.
The consumer of care, by seeking care in primary care, has selected a clinical home. Consistent with appropriate clinical practice, that should be honored. The primary care and specialty BH system should develop protocols, however, that spell out how acute behavioral health episodes or high-risk consumers will be handled.
This will also lead to clarity regarding the clinical home of consumers with SPMI who are currently stable, which should be based upon consumer choice and the specifics of the community collaboration.
QUADRANT II
High BH-low physical health complexity/risk, served in a specialty BH system that coordinates with the PCP.
The PCP provides primary care services and collaborates with the specialty BH providers to assure coordinated care for individuals.
Psychiatric consultation for the PCP may be an element in these complex BH situations, but it more likely that psychotropic medication management will be handled by the specialty BH system. The role of the specialty BH clinician is to provide BH assessment, arrange for or deliver specialty BH services, assure case management related to housing and other community supports, assure that the consumer has access to health care, and create a primary care communication approach (e.g., e-mail, v-mail, face to face) that assures coordinated service planning, especially in regard to medication management.
Specialty BH clinical and support services will vary based upon state and county level planning and financing; some localities may encompass the full range of services offered by specialty BH systems including:
Specialty MH Services
Crisis respite facilities
24/7 crisis telephone
Crisis residential facilities
Mobile crisis team
Crisis observation 23 hour beds
Urgent care walk in clinic
Locked sub-acute residential
Inpatient (voluntary and involuntary)
Dual diagnosis inpatient
Hospital discharge planning
Partial hospitalization
In-home stabilization
Outreach to homeless shelters
Outreach to jail/corrections
Outreach to other special populations
Individual/family treatment /counseling
Group treatment/counseling
Dual diagnosis treatment groups
Multifamily groups
Psychiatric evaluation/consultation
Psychiatric prescribing/management
Advice nurse (medication issues)
Psychological testing
Services for homebound frail or disabled
Specialized services for older adults
Brokerage case management
24/7 intensive home /community case management (ACT teams)
School-based assessment and treatment
Supported classroom
Stabilization classroom
Day treatment (adult, adolescent, child)
Supported employment /supported education
Transitional services for young adults
Individual skill building /coaching
Intensive peer support
After school structured services
Summer daily structure and support
Specialty SA Services
Sobering sites
Social detoxification/residential
Outpatient medical detoxification
Inpatient medical detoxification
Pre-treatment groups
Intensive outpatient treatment
Outpatient treatment
Day treatment
Aftercare/12 step groups
Narcotic replacement treatment
Residential Services
Boarding homes
Adult residential treatment
Child/adolescent residential treatment
Transitional housing
Adult family homes
Treatment foster care
Low income housing (dedicated to BH consumers)
Supports for SPMI / SED Populations
Representative payee/financial services
Time limited transitional groups
Parent support groups
Youth support groups
Dual diagnosis education/support groups
Caregiver/family support groups
Youth after school normalizing activities
Youth tutors/mentors
The BH clinician must be competent in both MH and SA assessment and service planning. A specific standard of practice should be adopted that defines the methods and frequency of communication with PCPs. Note that this quadrant is where most public sector BH consumers currently can be found.
QUADRANT III
Low BH-high physical health complexity/risk, served in the primary care/medical specialty system with BH staff on site in primary or medical specialty care, coordinating with all medical care providers including disease managers.
The PCP provides primary care services, works with medical specialty providers and disease managers (e.g. diabetes, asthma) to manage the physical health issues of the individual and uses standard BH screening tools and practice guidelines to serve most individuals in the primary care practice.
Use of standardized BH tools by the PCP and a tracking/registry system focuses referrals of a subset of the population to the BH clinician. The role of the primary care or medical specialty based BH clinician is to provide BH triage and assessment, consultation to the PCP or treatment services to the patient, referral to community and educational resources, and health risk education.
BH clinical and support services may include individual or group services, use of cognitive behavioral therapy, psycho-education, brief SA intervention, and limited case management. The BH clinician must be competent in both MH and SA assessment and service planning. The PCP prescribes psychotropic medications using treatment algorithms and has access to psychiatric consultation regarding medication management.
Depending on the setting, the BH clinician may also serve as a health educator regarding lifestyle and chronic health conditions found in the general public (diabetes, asthma) or conditions found in at-risk populations (Hepatitis C, HIV). T
These population-based services, as articulated by Bob Dyer, would include: patient education, activity planning; prompting; skill assessment; skill building; and, mutual support.iii In addition to these disease management services, the BH clinician might serve as a physician extender, supporting efficient use of physician time by problem solving with acute or chronic patients, as well as working with patients on medication compliance issues.
Specialty healthcare and disease management programs could also integrate depression screening into a wide array of self management and rehabilitation programs, building on current research findings regarding the frequency and impact of depression in cardiovascular or diabetes populations.
QUADRANT IV
High BH-high physical health complexity/risk, served in both the specialty BH and primary care/medical specialty systems; in addition to the BH case manager, there may be a disease manager, in which case the two managers work at a high level of coordination with one another and other members of the team.
The PCP works with medical specialty providers and disease managers (e.g. diabetes, asthma) to manage the physical health issues of the individual, while collaborating with the BH system in the planning and delivery of BH clinical and support services, which include those listed in Quadrant II.
Psychiatric consultation is a key element in these most complex situations. The role of the specialty BH clinician is to provide BH assessment, arrange for or deliver specialty BH services, assure case management related to housing and other community supports, and collaborate at a high level with the healthcare system team. The BH clinician must be competent in both MH and SA assessment and service planning.
In some settings, BH services may be integrated with specialty provider teams (for example, Kaiser has BH clinicians in OB/GYN working with substance abusing pregnant women). With the extension of disease management programs into Medicaid health plans, there is the likelihood of coordinating with disease managers in addition to healthcare providers.
The BH clinician and disease manager should assure they are not duplicating tasks, but working together to support the needs of the consumer. A specific standard of practice should be adopted that defines the methods and frequency of communication.
How to Choose a Fitness Program for your Child
Harvey Howard is the owner of My Gym Children’s Fitness Center in Cherry Hill, New Jersey. He is a certified special education teacher, elementary teacher, guidance counselor, and student assistance professional located in New Jersey. Here he discusses how parents can find the right fitness program for their child. When parents begin looking for a fitness program for their child, there are a number of factors that should be taken into consideration. Some questions parents may want to ask themselves—as well as the instructors working at the program—include: Does the program address different areas of children’s development—in terms of physical and emotional development?Does the program have a variety of challenging activities—such as a climbing as well as tumbling?Are kids having the opportunity to be in different body positions—i.e. are they developing more body awareness of themselves in the process?Is there a happy sense about the activities that are going on?Do the instructors seem engaged with the children?Have the instructors learned the children’s names?In the instruction, do all children feel like they are being encouraged?Are children praised for doing their best for trying, or is there a sense of failure with their attempt?Do instructors work with children of different levels of development?Does everyone have to perform at the same level to get the same amount of reinforcement?Children ages 2 and 5 have vastly different skill levels in terms of what they can accomplish, which is why it is important to find a facility where kids of all ages are encouraged equally, no matter how well they can perform certain activities and skills. Parents should not just check out just one program. Rather, they should personally visit a number of facilities and ask for guest passes so they can try out the classes and get a better feel for what is going on there. Once a child has started attending a new fitness program, it is important to stay alert and make sure your child is still enthusiastic about going. Kids are just like with adults. We go to fitness programs that we like and have fun at. So it should be the same bench mark for your children. If they are not having fun, they will not want to keep going. So some things to keep into consideration even after your child has started classes at a new facility include:Are they excited to go or are you forcing them?Does it look like your child takes ownership of wanting to go?Do they want to participate in the activities?By keeping these questions in mind, parents will be able to decide for themselves whether the gym they have chosen is really the best fit for their child The information in the article is not intended to substitute for the medical expertise and advice of your healthcare provider. We encourage you to discuss any decisions about treatment or care with an appropriate healthcare provider.
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