Maria Luisa Escolar

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Maria Luisa Escolar is a pediatrician, clinical professor, and researcher who specializes in pediatric neurodevelopmental disabilities. She is Founder and Director of the Program for the Study of Neurodevelopment in Rare Disorders at Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center. [1] Escolar is nationally and internationally known for her research and clinical care of children with leukodystrophies, lysosomal storage diseases, and other inherited metabolic diseases. [2]

Contents

Biography

Maria Luisa Escolar earned a medical degree at Escuela Colombiana de Medicina in Bogotá, Colombia in 1986; Master of Science in Human Nutrition at Columbia University College of Physicians and Surgeons, New York, NY in 1988; and continued her training in Child Development and Behavioral Pediatrics at New York Hospital–Cornell Medical Center. [3] [4]

In 2000 Escolar established the Early Childhood Clinic at the Clinical Center for the Study of Development and Learning at the University of North Carolina at Chapel Hill to provide comprehensive care for children affected by Krabbe disease and other lysosomal storage disorders. [3] This program became the Neurodevelopmental Function in Rare Disorders and gradually expanded to include other rare neurodegenerative disorders. [3] In 2011, the program moved to the Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center and was renamed the Program for the Study of Neurodevelopment in Rare Disorders. [1]

Escolar's work as a pediatrician specializing in rare neurodevelopmental diseases has become well known through word of mouth and media. [5] [6] [7] [8] [9] [10] [11] [12] [13] [14] Escolar has developed multidisciplinary approaches to diagnose these diseases and assess disease progression and treatment outcomes. [15] She has contributed to articles on the management of mucopolysaccharidosis type II (Hunter syndrome) [16] and assessment of neurodevelopment in lysosomal storage diseases and related disorders using standardized and validated tools. [17]

NDRD clinic

As a clinical associate in pediatrics at Duke University Medical Center, Escolar saw her first patient with Krabbe disease while evaluating outcomes of umbilical cord blood transplantation in children with lysosomal storage disorders. [3] [18] Successful management of disease symptoms in this patient led to referrals of other children with lysosomal storage disorders and to the awareness that few physicians had sufficient knowledge to care for these children. [18] To provide more comprehensive care at earlier disease stages and collect data for natural history studies, she established the Early Childhood Clinic at the Clinical Center for Development and Learning at the Carolina Institute for Developmental Disabilities, University of North Carolina–Chapel Hill, which evolved into the Program for Neurodevelopmental Function in Rare Disorders (NFRD). [3]

In 2011, Escolar joined the Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center, and the program was renamed the Program for the Study of Neurodevelopment in Rare Disorders (NDRD). [15] The NDRD provides clinical services, conducts research, and trains clinicians, researchers, and students. [19] Escolar has particular expertise in Krabbe disease but also sees patients with other neurodegenerative diseases including metachromatic leukodystrophy, adrenoleukodystrophy, and mucopolysaccharidosis disorders. [20]

Clinic visits typically include assessments by a neurodevelopmental pediatrician, neurologist, ophthalmologist, audiologist, physical therapist, and nurse practitioner, who provide recommendations for symptom management, schooling, therapies, and palliative care. [1] As of May 2015, the program was following more than 700 patients from 40 US states and 20 countries. [19] Escolar also consults with families of affected children who are unable to travel to the clinic and with their doctors through the NDRD Virtual Medical Home. [19] [21]

Rare disease research

Escolar's research focuses on describing the natural history of rare neurodegenerative conditions and developing qualitative and quantitative methods to assess treatment outcomes and monitor disease progression. She has also contributed to the characterization of neurophysiologic abnormalities in mucopolysaccharidosis type III (Sanfilippo syndrome) [22] and development of a potential biochemical biomarker that may aid in newborn screening for Krabbe disease. [23] In 2010 Escolar created the Krabbe Translational Research Network, a consortium of clinicians and researchers who are working together on specific projects to improve treatments for Krabbe disease [24] [25]

Treatment outcomes

While assessing treatment outcomes of children undergoing umbilical cord blood transplantation at Duke University Hospital, Escolar hypothesized that treatment of children with Krabbe disease would be more effective if performed earlier in the disease process. [3] To test that hypothesis, Escolar and colleagues compared treatment outcomes of patients with infantile Krabbe disease identified through family history who were symptomatic or asymptomatic at the time of treatment. In the short term, umbilical cord blood transplantation improved neurodevelopmental function and survival. [26] A follow-up study reported that most of the children treated while still asymptomatic had normal cognitive function, vision, and hearing 10 years after transplantation but experienced varying degrees of motor disability, growth failure, and speech difficulties. [27]

Escolar has also studied treatment outcomes in other neurodegenerative diseases and has recommended specific standardized assessment instruments to evaluate outcomes in children with Hurler syndrome. [28] Escolar and colleagues report that early treatment with umbilical cord blood transplantation can improve somatic impairment, cognitive function, and motor skills in children with mucopolysaccharidosis type I (Hurler syndrome); [29] [30] [31] adaptive behavior and cognitive, language, and motor skills in boys with adrenoleukodystrophy; [32] and hearing, neurodevelopment, and skeletal abnormalities in children with alpha-mannosidosis. [33]

Natural history studies

After beginning to provide clinical services for children with rare neurodegenerative diseases, Escolar realized the need for natural history studies. Systematic collection of clinical data has resulted in a database of information on more 700 patients. [1] [3] [19] These studies are used to better understand disease progression, distinguish among disease subtypes, improve diagnostic tests, define endpoints for clinical trials, and evaluate response to treatment. [19] [34] [35] [36] She has published or contributed to natural history studies on Sanfilippo syndrome type A [37] and studies evaluating transplantation outcomes for patients with Hurler syndrome [38] [39] and metachromatic leukodystrophy. [40]

Clinical tools for detecting neurodegenerative disease

Escolar has worked with other clinicians to identify tools that could help decrease the time to diagnosis and identify patients with early-onset forms of these diseases that require urgent treatment decisions. With Dr. Stephanie Wolfe, a child neurology specialist at the University of North Carolina, Escolar developed the Protocol for the Assessment of Neurodevelopmental Function in Early Infancy (PANDI) to detect developmental delays at an early age, predict future neurodevelopment, and give parents the information they need to provide their children with early interventions. [41] [42] With Dr. Michele Poe, Escolar and the NFRD staff developed a staging system to help physicians determine whether a patient with Krabbe disease was a good candidate for transplantation. The patient's pretransplant stage, based on clinical signs and symptoms, is used to predict neurodevelopmental outcomes after treatment. [43]

To assess neurodevelopmental changes in children with lysosomal storage diseases and related disorders, Escolar and the NDRD staff developed a multidisciplinary approach using a combination of standardized and validated tests. [44] These tests can be used for the longitudinal tracking of development (speech/language, cognition, and fine and gross motor development, and adaptive behavior) and take into account limitations caused by neurological, sensory and somatic problems. To identify which patients with mucopolysaccharidosis type II (Hunter syndrome) have the severe neurodegenerative form of the disease, Escolar's group developed a severity score index based on clinical markers of neurologic disease as a screening tool. [45]

Neuroimaging tools for diagnosis and evaluation of disease progression

Because clinical evaluations of children at risk for Krabbe disease are not easily reproducible, Escolar has collaborated with neuroradiologists to develop better tools to diagnose this and other neurodegenerative diseases and to evaluate disease progression, effects of treatment on different brain regions, and the development and timing of myelination. [3] [46] [47] [48] [49] [50] [51] [52] [53] [54] [55]

Escolar and collaborators have reported that diffusion tensor imaging tractography with white matter volumetric analysis can detect white matter changes in the early stages of infantile Krabbe disease before symptoms are apparent. [56] A subsequent study showed that reductions in fractional anisotropy in the corticospinal tract can predict response to treatment and long-term neurodevelopment (longitudinal changes in cognitive function, motor skills, and adaptive behavior). [57]

In 2015, Escolar and colleagues developed a simple scoring system of midbrain morphology, as determined by magnetic resonance imaging, to assess disease severity in infantile Krabbe disease. Their research showed that flat or concave morphology of the midbrain correlates with poorer cognitive and gross motor function. [58]

NDRD training program

Because few physicians specialize in rare neurodevelopmental disorders, Escolar has developed a training program for students, physicians, and other specialists including those in the fields of psychology, speech/language pathology, audiology, physical therapy, occupational therapy, nutrition, education, social work, biostatistics, and nursing. [59] [60] In addition, she serves as a consultant to establish similar clinics in other countries. [61] [62]

Related Research Articles

<span class="mw-page-title-main">Umbilical cord</span> Conduit between embryo/fetus and the placenta

In placental mammals, the umbilical cord is a conduit between the developing embryo or fetus and the placenta. During prenatal development, the umbilical cord is physiologically and genetically part of the fetus and normally contains two arteries and one vein, buried within Wharton's jelly. The umbilical vein supplies the fetus with oxygenated, nutrient-rich blood from the placenta. Conversely, the fetal heart pumps low-oxygen, nutrient-depleted blood through the umbilical arteries back to the placenta.

<span class="mw-page-title-main">Mucopolysaccharidosis</span> Medical condition

Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. GAGs are also found in the fluids that lubricate joints.

<span class="mw-page-title-main">Hematopoietic stem cell transplantation</span> Medical procedure to replace blood or immune stem cells

Hematopoietic stem-cell transplantation (HSCT) is the transplantation of multipotent hematopoietic stem cells, usually derived from bone marrow, peripheral blood, or umbilical cord blood, in order to replicate inside a patient and produce additional normal blood cells. HSCT may be autologous, syngeneic, or allogeneic.

<span class="mw-page-title-main">Lysosomal storage disease</span> Medical condition

Lysosomal storage diseases are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. This process requires several critical enzymes. If one of these enzymes is defective due to a mutation, the large molecules accumulate within the cell, eventually killing it.

<span class="mw-page-title-main">Sanfilippo syndrome</span> Rare metabolism disorder

Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare lifelong genetic disease that mainly affects the brain and spinal cord. It is caused by a problem with how the body breaks down certain large sugar molecules called glycosaminoglycans (also known as GAGs or mucopolysaccharides). In children with this condition, these sugar molecules build up in the body and eventually lead to damage of the central nervous system and other organ systems.

<span class="mw-page-title-main">Alpha-mannosidosis</span> Medical condition

Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in 1967. In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency. Consequently, if both parents are carriers, there will be a 25% chance with each pregnancy that the defective gene from both parents will be inherited, and the child will develop the disease. There is a two in three chance that unaffected siblings will be carriers. In livestock alpha-mannosidosis is caused by chronic poisoning with swainsonine from locoweed.

<span class="mw-page-title-main">Hurler syndrome</span> Genetic disorder

Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (GAGs) in lysosomes. The inability to break down these molecules results in a wide variety of symptoms caused by damage to several different organ systems, including but not limited to the nervous system, skeletal system, eyes, and heart.

<span class="mw-page-title-main">Wiskott–Aldrich syndrome</span> Medical condition

Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia, immune deficiency, and bloody diarrhea. It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in 1954. The WAS-related disorders of X-linked thrombocytopenia (XLT) and X-linked congenital neutropenia (XLN) may present with similar but less severe symptoms and are caused by mutations of the same gene.

<span class="mw-page-title-main">Krabbe disease</span> Medical condition

Krabbe disease (KD) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. KD involves dysfunctional metabolism of sphingolipids and is inherited in an autosomal recessive pattern. The disease is named after the Danish neurologist Knud Krabbe (1885–1961).

<span class="mw-page-title-main">Hypoplastic left heart syndrome</span> Type of congenital heart defect

Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left side of the heart is severely underdeveloped and incapable of supporting the systemic circulation. It is estimated to account for 2-3% of all congenital heart disease. Early signs and symptoms include poor feeding, cyanosis, and diminished pulse in the extremities. The etiology is believed to be multifactorial resulting from a combination of genetic mutations and defects resulting in altered blood flow in the heart. Several structures can be affected including the left ventricle, aorta, aortic valve, or mitral valve all resulting in decreased systemic blood flow.

Cord blood is blood that remains in the placenta and in the attached umbilical cord after childbirth. Cord blood is collected because it contains stem cells, which can be used to treat hematopoietic and genetic disorders such as cancer.

Enzyme replacement therapy (ERT) is a medical treatment which replaces an enzyme that is deficient or absent in the body. Usually, this is done by giving the patient an intravenous (IV) infusion of a solution containing the enzyme.

<span class="mw-page-title-main">Hunter syndrome</span> X-linked recessive genetic condition

Hunter syndrome, or mucopolysaccharidosis type II, is a rare genetic disorder in which large sugar molecules called glycosaminoglycans build up in body tissues. It is a form of lysosomal storage disease. Hunter syndrome is caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). The lack of this enzyme causes heparan sulfate and dermatan sulfate to accumulate in all body tissues. Hunter syndrome is the only MPS syndrome to exhibit X-linked recessive inheritance.

Mucolipidosis type IV is an autosomal recessive lysosomal storage disorder. Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations. The disorder is caused by mutations in the MCOLN1 gene, which encodes a non-selective cation channel, mucolipin1. These mutations disrupt cellular functions and lead to a neurodevelopmental disorder through an unknown mechanism. Researchers dispute the physiological role of the protein product and which ion it transports.

Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II, is part of the lysosomal storage disease family and results from a defective phosphotransferase. This enzyme transfers phosphate to mannose residues on specific proteins. Mannose-6-phosphate serves as a marker for proteins to be targeted to lysosomes within the cell. Without this marker, proteins are instead secreted outside the cell, which is the default pathway for proteins moving through the Golgi apparatus. Lysosomes cannot function without these proteins, which function as catabolic enzymes for the normal breakdown of substances in various tissues throughout the body. As a result, a buildup of these substances occurs within lysosomes because they cannot be degraded, resulting in the characteristic I-cells, or "inclusion cells" seen microscopically. In addition, the defective lysosomal enzymes normally found only within lysosomes are instead found in high concentrations in the blood, but they remain inactive at blood pH because they require the low lysosomal pH 5 to function.

<span class="mw-page-title-main">Maroteaux–Lamy syndrome</span> Lysosomal storage disease

Maroteaux–Lamy syndrome, or Mucopolysaccharidosis Type VI (MPS-VI), is an inherited disease caused by a deficiency in the enzyme arylsulfatase B (ARSB). ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans. In particular, ARSB breaks down dermatan sulfate and chondroitin sulfate. Because people with MPS-VI lack the ability to break down these GAGs, these chemicals build up in the lysosomes of cells. MPS-VI is therefore a type of lysosomal storage disease.

Pablo Rubinstein is a pioneer in freezing of umbilical cord blood or placental blood cells for the use for unrelated donors to treat diseases like leukemia and genetic diseases such as Tay–Sachs disease and sickle cell anemia. He pioneered and established an international cord blood banking system and has played a leading role in international cord blood transplantation.

Juvenile myelomonocytic leukemia (JMML) is a rare form of chronic leukemia that affects children, commonly those aged four and younger. The name JMML now encompasses all diagnoses formerly referred to as juvenile chronic myeloid leukemia (JCML), chronic myelomonocytic leukemia of infancy, and infantile monosomy 7 syndrome. The average age of patients at diagnosis is two (2) years old. The World Health Organization has included JMML as a subcategory of myelodysplastic and myeloproliferative disorders.

<span class="mw-page-title-main">Lysosomal acid lipase deficiency</span> Medical condition

Lysosomal acid lipase deficiency is an autosomal recessive inborn error of metabolism that results in the body not producing enough active lysosomal acid lipase (LAL) enzyme. This enzyme plays an important role in breaking down fatty material in the body. Infants, children and adults that have LAL deficiency experience a range of serious health problems. The lack of the LAL enzyme can lead to a build-up of fatty material in a number of body organs including the liver, spleen, gut, in the wall of blood vessels and other important organs.

Wendy K. Chung is an American clinical and molecular geneticist and physician. She is the Chair of the Department of Pediatrics at Boston Children's Hospital and is on the faculty at Harvard Medical School. She is the author of 700 peer-reviewed articles and 75 chapters and has won several awards as a physician, researcher, and professor. Chung helped to initiate a new form of newborn screening for spinal muscular atrophy which is used nationally and was among the plaintiffs in the Supreme Court case which banned gene patenting.

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  49. ↑ Sharma A, Fletcher PT, Gilmore JH, Escolar ML, Gupta A, Styner M, Gerig G (2013). "Spatiotemporal modeling of discrete-time distribution-valued data applied to DTI tract evolution in infant neurodevelopment". Proc IEEE Int Symp Biomed Imaging. 2013: 684–687. doi:10.1109/ISBI.2013.6556567. PMC   3892706 . PMID   24443688.
  50. ↑ Farzinfar M, Oguz I, Smith RG, Verde AR, Dietrich C, Gupta A, Escolar ML, Piven J, Pujol S, Vachet C, Gouttard S, Gerig G, Dager S, McKinstry RC, Paterson S, Evans AC, Styner MA (2013). "Diffusion imaging quality control via entropy of principal direction distribution". NeuroImage. 82: 1–12. doi:10.1016/j.neuroimage.2013.05.022. PMC   3798052 . PMID   23684874.
  51. ↑ Wang Y, Gupta A, Liu Z, Zhang H, Escolar ML, Gilmore JH, Gouttard S, Fillard P, Maltbie E, Gerig G, Styner M (Apr 2011). "DTI registration in atlas based fiber analysis of infantile Krabbe disease". NeuroImage. 55 (4): 1577–86. doi:10.1016/j.neuroimage.2011.01.038. PMC   3062693 . PMID   21256236.
  52. ↑ Fan Z, Styner M, Muenzer J, Poe MD, Escolar ML (Aug 2010). "Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II". AJNR Am J Neuroradiol. 31 (7): 1319–23. doi: 10.3174/ajnr.A2032 . PMC   7965470 . PMID   20203116.
  53. ↑ Provenzale JM, Peddi S, Kurtzberg J, Poe MD, Mukundan S, Escolar M (Jan 2009). "Correlation of neurodevelopmental features and MRI findings in infantile Krabbe's disease". AJR Am J Roentgenol. 192 (1): 59–65. doi:10.2214/AJR.07.3885. PMID   19098180.
  54. ↑ Provenzale JM, Escolar M, Kurtzberg J (Dec 2005). "Quantitative analysis of diffusion tensor imaging data in serial assessment of Krabbe disease". Ann N Y Acad Sci. 1064 (1): 220–9. Bibcode:2005NYASA1064..220P. doi:10.1196/annals.1340.040. PMID   16394159. S2CID   7103301.
  55. ↑ McGraw P, Liang L, Escolar M, Mukundan S, Kurtzberg J, Provenzale JM (2005). "Krabbe Disease Treated with Hematopoietic Stem Cell Transplantation: Serial Assessment of Anisotropy Measurements—Initial Experience". Radiology. 236 (1): 221–230. doi:10.1148/radiol.2353040716. PMID   15987975.
  56. ↑ Escolar ML, Poe MD, Smith JK, Gilmore JH, Kurtzberg J, Lin W, Styner M (May 2009). "Diffusion tensor imaging detects abnormalities in the corticospinal tracts of neonates with infantile Krabbe disease". AJNR Am J Neuroradiol. 30 (5): 1017–21. doi:10.3174/ajnr.A1476. PMC   2763775 . PMID   19386732.
  57. ↑ Gupta A, Poe MD, Styner MA, Panigrahy A, Escolar ML (Sep 2014). "Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease". NeuroImage Clin. 7: 792–8. doi:10.1016/j.nicl.2014.09.014. PMC   4375637 . PMID   25844309.
  58. ↑ Zuccoli G, Narayanan S, Panigrahy A, Poe MD, Escolar ML (2015). "Midbrain morphology reflects extent of brain damage in Krabbe disease". Neuroradiology. 57 (7): 739–745. doi:10.1007/s00234-015-1523-7. PMID   25859833. S2CID   6349697.
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  60. ↑ "Caterina Marcus Foundation". Caterina Marcus Foundation. Archived from the original on 2016-03-04. Retrieved 2015-07-19.
  61. ↑ "Brain Care Institute: Dr. Maria Escolar". YouTube. 2012-08-13. Retrieved 2015-07-19.
  62. ↑ "International Collaborations". Chp.edu. 2014-10-28. Retrieved 2015-07-19.
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