The Neurofibromatosis Comprehensive Care Team at St. Louis Children's Hospital provides detailed patient assessments and works with referring physicians, allied health professionals and agencies to deliver state-of-the-art medical services both locally and nationally.
Neurofibromatosis affects different people in different ways. As a team, we work with our patients and their families to care for the whole person.
To do so, all team members at St. Louis Children’s Hospital and Washington University meet regularly to discuss current standards of care and to discuss exciting new developments. These meetings not only include health care professionals, but also research scientists. Through regular communication, our team is able to provide the most up to date and progressive treatment plans.
In this segment, David Gutmann, MD, PhD, Washington University pediatric neurologist at St. Louis Children’s Hospital, discusses Neurofibromatosis Research and clinical care.
Neurofibromatosis: Research and Clinical Care
Featured Speaker:
Learn more about David Gutmann, MD, PhD
David Gutmann, MD, PhD
David Gutmann, MD, PhD, is a Washington University pediatric neurologist at St. Louis Children’s Hospital.Learn more about David Gutmann, MD, PhD
Transcription:
Neurofibromatosis: Research and Clinical Care
Melanie Cole (Host): The Neurofibromatosis Comprehensive Care Team at Saint Louis Children’s Hospital provides detailed patient assessments and works with referring physicians, allied health professionals, and agencies to deliver state-of-the-art medical services both locally and nationally. My guest today is Dr. David Gutmann. He’s a Washington University, pediatric neurologist at Saint Louis Children’s Hospital. Welcome to the show, Dr. Gutmann. Let’s start with a basic working definition of neurofibromatosis and what are some of the causes that you’ve been able to identify?
Dr. David Gutmann (Guest): Neurofibromatosis is actually a group of genetic conditions that affect children and young adults. The most common of which is neurofibromatosis type one, which affects about 1 in 2500 people throughout the world, making it one of the most common genetic conditions that most people have never heard of.
Melanie: So who are the affected populations?
Dr. Gutmann: Children usually come to our attention when they present to their pediatrician with birthmarks called café au lait spots to denote the fact that they are lightly colored like coffee with milk. These birthmarks are usually in the half a dozen range, but kids may have as many as twenty. That’s a first sign that a young child has neurofibromatosis. Over the course of their life, they’re at risk for developing problems affecting nearly every organ system in the body including nerves and brain tumors, bone defects, heart and blood vessel problems, and when they get older some types of cancer.
Melanie: Who would be the diagnosing physician, Dr. Gutmann? Would a pediatrician first notice these café au lait spots and then refer them, or would this be something that they could diagnose?
Dr. Gutmann: Typically, young children come to our attention when a nurse or nurse practitioner, a pediatrician, sometimes even a school nurse will notice that a child has many of these birthmarks. While the diagnosis is not usually a mystery, it’s the management of children who are at risk for a large number of medical problems that becomes a challenge. It is for this reason that children and young adults with NF1 are best managed by teams of physicians who are quite adept and quite experienced in this complex condition.
Melanie: Let’s talk about the management. Tell us about some of the standard therapies, and even some of the investigational ones for neurofibromatosis.
Dr. Gutmann: I’m going to focus my attention on NF Type one since it’s the most common. Children with NF1 can develop different medical problems at different ages and what we do when we see them in the clinic setting is to evaluate them for any of these potential problems in an age-appropriate manner. In very small children, we’re looking to make sure that they don’t have a particular kind of nerve tumor that can be disfiguring. We make sure that the bones are well-aligned and they’re not at risk for a very serious type of fracture that could lead to amputation.
As they get older, we will make sure that their development of neurologic behavior is on target because a large proportion of our kids will have learning, behavioral, even social problems like we see in children with autism. Because these problems may be under the radar screen for the practicing, busy pediatricians, it’s important that we focus our energies on identifying these problems as soon as possible in our clinic.
We screen our children with a number of conventional tools for attention, for learning, for development, for autism, so that we can catch them at the earliest stages and implement therapy. The therapies that are standard now for kids with NF1 often borrow from treatments that we use for kids without NF1 like stimulant medications for attention deficit, like forms of chemotherapy for brain tumors, but the future, where we are at Saint Louis Children’s Hospital as we’re the NF Center of Washington University -- are at the cutting edge of, is in the investigational therapies.
These come from basic science laboratory research. Work from Washington University from my lab, in particular, have identified a couple of new medications, new chemotherapies, that are now in clinical trials for children with NF and brain and nerve tumors. We are waiting to see how these drugs will fare, whether they’ll outperform the kinds of therapies that we’ve been borrowing from conventional brain tumor therapy. We’re excited because this is a new phase of treatment, more targeted to the problem that these kids with NF1 have.
Melanie: And what sort of regular monitoring do you feel is important for managing the disease as far as annual physical exams, or ocular screenings, or any of these types of screenings?
Dr. Gutmann: We see our children at least once a year. Children that are younger than ten years of age will have their eyes examined by one of our experienced ophthalmologists. We will assess them with a physical therapist in the clinic. We will do all of the behavioral assessments, and the learning assessments, and the development assessments right in the clinic. We feel that when the parents leave the clinic, they will have a very good sense of where that child is today, what problems might be coming down the road, and who they might need to see.
Because I’ve been fortunate enough to work at such a fabulous university and such a great hospital, all of our subspecialists are experts in NF. That ranges from the endocrinologist and the orthopedic surgeons all the way to the neuropsychologists and neurooncologists. That’s an unusual situation. Many places can’t boast that they have such a team of highly experienced NF physicians.
Melanie: As far as advanced imaging to identify and monitor internal tumors, are you using whole-body MRI? Is this a tool that might help with quantitative monitoring of these internal tumors?
Dr. Gutmann: Whole-body MRI scans are being used in a couple of places. It’s not clear whether that has predictive value, whether that’s going to be able to determine what kinds of problems people will get into down the road. It certainly provides a snapshot of the number, the size, and the locations of the tumors, but much more work is going to need to be done before it becomes routine practice.
Melanie: In summary, Dr. Gutmann, tell us about the Neurofibromatosis and Research, and Clinical Care Team at Saint Louis Children’s Hospital.
Dr. Gutmann: Well we’re very fortunate to have such a well-interconnected team that’s embedded in one of the world’s largest research facilities dedicated to NF. The clinical program itself is one arm of a very large center where there are over twenty investigators who spend some part of their research portfolio and time and effort focus on NF. That’s allowed us to identify the kinds of problems – the spectrum of problems that we see in kids with NF. It’s allowed us to identify new therapies and when our families come to see us, not only are they benefiting from being at a place where the best possible treatment will be available to them, but where the treatments of tomorrow are going to be coming from.
In addition to the rigorous and careful monitoring that they’re getting in the clinic, we’ve also developed complementary care programs for our families that don’t exist in other places in the country, that start with the toddlers with NF to focus on motor and development problems using jazz music. This is a partnership with Maryville University, and with Jazz, Saint Louis called Beat NF where we use the jazz music structure to help our young kids – these very young toddlers master skills that their typically developing peers have already mastered. They then graduate from Beat NF to Club NF where we spend more time on motor delays, both fine and motor delays.
And then finally, for a select number of our kids who have social impairment like autism, working with the neuropsychologists at Children’s Hospital, we developed Teen NF, which is really a social and behavioral therapy program. Not only do they benefit from having the kind of research infrastructure, a well-put-together and highly-interdigitated clinical team, but they also have this network that’s created by the complementary care program where they can meet and network with other families who are similarly affected.
Melanie: What a fascinating program that you have, Dr. Gutmann. What can a pediatrician expect from your team at Saint Louis Children’s Hospital after referring a patient to you?
Dr. Gutmann: We hope that it’s the beginning of a dialogue between our referring physicians and our program. We’re there to help address a problem that they don’t feel they have the expertise to address specific to NF. And then we can partner with them to continue their own education about this complex disorder, but be there go to people for the management and treatment of the child.
Melanie: Thank you, so much for being with us today. A physician can refer a patient by calling Children’s Direct Physician Access Line at 1-800-678-HELP, that’s 1-800-678- 4357. You’re listening to Radio Rounds at Saint Louis Children’s Hospital. For more information on resources available at Saint Louis Children’s Hospital, you can go to SaintLouisChildrens.org, that’s SaintLouisChildrens.org. This is Melanie Cole. Thanks, so much for listening.
Neurofibromatosis: Research and Clinical Care
Melanie Cole (Host): The Neurofibromatosis Comprehensive Care Team at Saint Louis Children’s Hospital provides detailed patient assessments and works with referring physicians, allied health professionals, and agencies to deliver state-of-the-art medical services both locally and nationally. My guest today is Dr. David Gutmann. He’s a Washington University, pediatric neurologist at Saint Louis Children’s Hospital. Welcome to the show, Dr. Gutmann. Let’s start with a basic working definition of neurofibromatosis and what are some of the causes that you’ve been able to identify?
Dr. David Gutmann (Guest): Neurofibromatosis is actually a group of genetic conditions that affect children and young adults. The most common of which is neurofibromatosis type one, which affects about 1 in 2500 people throughout the world, making it one of the most common genetic conditions that most people have never heard of.
Melanie: So who are the affected populations?
Dr. Gutmann: Children usually come to our attention when they present to their pediatrician with birthmarks called café au lait spots to denote the fact that they are lightly colored like coffee with milk. These birthmarks are usually in the half a dozen range, but kids may have as many as twenty. That’s a first sign that a young child has neurofibromatosis. Over the course of their life, they’re at risk for developing problems affecting nearly every organ system in the body including nerves and brain tumors, bone defects, heart and blood vessel problems, and when they get older some types of cancer.
Melanie: Who would be the diagnosing physician, Dr. Gutmann? Would a pediatrician first notice these café au lait spots and then refer them, or would this be something that they could diagnose?
Dr. Gutmann: Typically, young children come to our attention when a nurse or nurse practitioner, a pediatrician, sometimes even a school nurse will notice that a child has many of these birthmarks. While the diagnosis is not usually a mystery, it’s the management of children who are at risk for a large number of medical problems that becomes a challenge. It is for this reason that children and young adults with NF1 are best managed by teams of physicians who are quite adept and quite experienced in this complex condition.
Melanie: Let’s talk about the management. Tell us about some of the standard therapies, and even some of the investigational ones for neurofibromatosis.
Dr. Gutmann: I’m going to focus my attention on NF Type one since it’s the most common. Children with NF1 can develop different medical problems at different ages and what we do when we see them in the clinic setting is to evaluate them for any of these potential problems in an age-appropriate manner. In very small children, we’re looking to make sure that they don’t have a particular kind of nerve tumor that can be disfiguring. We make sure that the bones are well-aligned and they’re not at risk for a very serious type of fracture that could lead to amputation.
As they get older, we will make sure that their development of neurologic behavior is on target because a large proportion of our kids will have learning, behavioral, even social problems like we see in children with autism. Because these problems may be under the radar screen for the practicing, busy pediatricians, it’s important that we focus our energies on identifying these problems as soon as possible in our clinic.
We screen our children with a number of conventional tools for attention, for learning, for development, for autism, so that we can catch them at the earliest stages and implement therapy. The therapies that are standard now for kids with NF1 often borrow from treatments that we use for kids without NF1 like stimulant medications for attention deficit, like forms of chemotherapy for brain tumors, but the future, where we are at Saint Louis Children’s Hospital as we’re the NF Center of Washington University -- are at the cutting edge of, is in the investigational therapies.
These come from basic science laboratory research. Work from Washington University from my lab, in particular, have identified a couple of new medications, new chemotherapies, that are now in clinical trials for children with NF and brain and nerve tumors. We are waiting to see how these drugs will fare, whether they’ll outperform the kinds of therapies that we’ve been borrowing from conventional brain tumor therapy. We’re excited because this is a new phase of treatment, more targeted to the problem that these kids with NF1 have.
Melanie: And what sort of regular monitoring do you feel is important for managing the disease as far as annual physical exams, or ocular screenings, or any of these types of screenings?
Dr. Gutmann: We see our children at least once a year. Children that are younger than ten years of age will have their eyes examined by one of our experienced ophthalmologists. We will assess them with a physical therapist in the clinic. We will do all of the behavioral assessments, and the learning assessments, and the development assessments right in the clinic. We feel that when the parents leave the clinic, they will have a very good sense of where that child is today, what problems might be coming down the road, and who they might need to see.
Because I’ve been fortunate enough to work at such a fabulous university and such a great hospital, all of our subspecialists are experts in NF. That ranges from the endocrinologist and the orthopedic surgeons all the way to the neuropsychologists and neurooncologists. That’s an unusual situation. Many places can’t boast that they have such a team of highly experienced NF physicians.
Melanie: As far as advanced imaging to identify and monitor internal tumors, are you using whole-body MRI? Is this a tool that might help with quantitative monitoring of these internal tumors?
Dr. Gutmann: Whole-body MRI scans are being used in a couple of places. It’s not clear whether that has predictive value, whether that’s going to be able to determine what kinds of problems people will get into down the road. It certainly provides a snapshot of the number, the size, and the locations of the tumors, but much more work is going to need to be done before it becomes routine practice.
Melanie: In summary, Dr. Gutmann, tell us about the Neurofibromatosis and Research, and Clinical Care Team at Saint Louis Children’s Hospital.
Dr. Gutmann: Well we’re very fortunate to have such a well-interconnected team that’s embedded in one of the world’s largest research facilities dedicated to NF. The clinical program itself is one arm of a very large center where there are over twenty investigators who spend some part of their research portfolio and time and effort focus on NF. That’s allowed us to identify the kinds of problems – the spectrum of problems that we see in kids with NF. It’s allowed us to identify new therapies and when our families come to see us, not only are they benefiting from being at a place where the best possible treatment will be available to them, but where the treatments of tomorrow are going to be coming from.
In addition to the rigorous and careful monitoring that they’re getting in the clinic, we’ve also developed complementary care programs for our families that don’t exist in other places in the country, that start with the toddlers with NF to focus on motor and development problems using jazz music. This is a partnership with Maryville University, and with Jazz, Saint Louis called Beat NF where we use the jazz music structure to help our young kids – these very young toddlers master skills that their typically developing peers have already mastered. They then graduate from Beat NF to Club NF where we spend more time on motor delays, both fine and motor delays.
And then finally, for a select number of our kids who have social impairment like autism, working with the neuropsychologists at Children’s Hospital, we developed Teen NF, which is really a social and behavioral therapy program. Not only do they benefit from having the kind of research infrastructure, a well-put-together and highly-interdigitated clinical team, but they also have this network that’s created by the complementary care program where they can meet and network with other families who are similarly affected.
Melanie: What a fascinating program that you have, Dr. Gutmann. What can a pediatrician expect from your team at Saint Louis Children’s Hospital after referring a patient to you?
Dr. Gutmann: We hope that it’s the beginning of a dialogue between our referring physicians and our program. We’re there to help address a problem that they don’t feel they have the expertise to address specific to NF. And then we can partner with them to continue their own education about this complex disorder, but be there go to people for the management and treatment of the child.
Melanie: Thank you, so much for being with us today. A physician can refer a patient by calling Children’s Direct Physician Access Line at 1-800-678-HELP, that’s 1-800-678- 4357. You’re listening to Radio Rounds at Saint Louis Children’s Hospital. For more information on resources available at Saint Louis Children’s Hospital, you can go to SaintLouisChildrens.org, that’s SaintLouisChildrens.org. This is Melanie Cole. Thanks, so much for listening.