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  1. Article ; Online: Diagnosis and Initial Treatment of Functional Movement Disorders in Children.

    Larsh, Travis / Wilson, Jenny / Mackenzie, Katherine M / O'Malley, Jennifer A

    Seminars in pediatric neurology

    2022  Volume 41, Page(s) 100953

    Abstract: Functional movement disorders (FMD) are complex neurobehavioral disorders that can be a significant source of disability for both children and their caregivers. While FMD in the adult population is better characterized, the aim of this paper is to review ...

    Abstract Functional movement disorders (FMD) are complex neurobehavioral disorders that can be a significant source of disability for both children and their caregivers. While FMD in the adult population is better characterized, the aim of this paper is to review the pertinent clinical and historical features, diagnostic criteria, and multi-disciplinary management of FMD in the pediatric population. We highlight recent trends in pediatric FMD, including the increase in functional tic-like behaviors that has been observed during the COVID-19 pandemic.
    MeSH term(s) Adult ; COVID-19 ; Child ; Conversion Disorder/epidemiology ; Humans ; Movement Disorders/diagnosis ; Movement Disorders/therapy ; Pandemics
    Language English
    Publishing date 2022-02-05
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1290000-x
    ISSN 1558-0776 ; 1071-9091
    ISSN (online) 1558-0776
    ISSN 1071-9091
    DOI 10.1016/j.spen.2022.100953
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Who should teach clinical skills to nursing students?

    Mackenzie, Katherine M

    British journal of nursing (Mark Allen Publishing)

    2009  Volume 18, Issue 7, Page(s) 395–398

    Abstract: Nurse education has traditionally relied on clinical placements to provide nursing students with the 'hands-on' experience that is not possible to teach in a classroom setting. However, with changes to the NHS this is becoming increasingly difficult, ... ...

    Abstract Nurse education has traditionally relied on clinical placements to provide nursing students with the 'hands-on' experience that is not possible to teach in a classroom setting. However, with changes to the NHS this is becoming increasingly difficult, with fewer resources available and issues of patient safety to consider. Hennman and Cunningham (2005) recognize there is a significant gulf between the theoretical component taught in the classroom and the complex realities of clinical practice. Cave (2005) has suggested the move into higher education has hindered rather than helped the linking of theory and practice in nurse education, because many nurse teachers are far removed from clinical practice and therefore no longer competent or clinically credible to be able to teach up-to-date clinical skills. In Scotland the Practice Education Facilitators role in integrating theory with practice is essential for both the NHS Trusts and higher education institutes. It would appear that these clinicians are the lynchpin between linking university work with the harsh realities of daily practice. If nurse education is to provide effective clinical skill simulation then it must also provide effective teachers who are up to date with current practice. In many cases this will not be the nurse teacher.
    MeSH term(s) Australia ; Clinical Competence ; Education, Nursing, Baccalaureate/organization & administration ; Faculty, Nursing/organization & administration ; Health Services Needs and Demand ; Humans ; Nurse's Role ; Nursing Theory ; Patient Simulation ; Preceptorship/organization & administration ; Role Playing ; Scotland ; State Medicine/organization & administration ; Students, Nursing ; Teaching/organization & administration
    Language English
    Publishing date 2009-04
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1119191-0
    ISSN 0966-0461
    ISSN 0966-0461
    DOI 10.12968/bjon.2009.18.7.41651
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.

    Lüthy, Kevin / Mei, Davide / Fischer, Baptiste / De Fusco, Maurizio / Swerts, Jef / Paesmans, Jone / Parrini, Elena / Lubarr, Naomi / Meijer, Inge A / Mackenzie, Katherine M / Lee, Wang-Tso / Cittaro, Davide / Aridon, Paolo / Schoovaerts, Nils / Versées, Wim / Verstreken, Patrik / Casari, Giorgio / Guerrini, Renzo

    Brain : a journal of neurology

    2019  Volume 142, Issue 8, Page(s) 2319–2335

    Abstract: Genetic mutations in TBC1D24 have been associated with multiple phenotypes, with epilepsy being the main clinical manifestation. The TBC1D24 protein consists of the unique association of a Tre2/Bub2/Cdc16 (TBC) domain and a TBC/lysin motif domain/ ... ...

    Abstract Genetic mutations in TBC1D24 have been associated with multiple phenotypes, with epilepsy being the main clinical manifestation. The TBC1D24 protein consists of the unique association of a Tre2/Bub2/Cdc16 (TBC) domain and a TBC/lysin motif domain/catalytic (TLDc) domain. More than 50 missense and loss-of-function mutations have been described and are spread over the entire protein. Through whole genome/exome sequencing we identified compound heterozygous mutations, R360H and G501R, within the TLDc domain, in an index family with a Rolandic epilepsy exercise-induced dystonia phenotype (http://omim.org/entry/608105). A 20-year long clinical follow-up revealed that epilepsy was self-limited in all three affected patients, but exercise-induced dystonia persisted into adulthood in two. Furthermore, we identified three additional sporadic paediatric patients with a remarkably similar phenotype, two of whom had compound heterozygous mutations consisting of an in-frame deletion I81_K84 and an A500V mutation, and the third carried T182M and G511R missense mutations, overall revealing that all six patients harbour a missense mutation in the subdomain of TLDc between residues 500 and 511. We solved the crystal structure of the conserved Drosophila TLDc domain. This allowed us to predict destabilizing effects of the G501R and G511R mutations and, to a lesser degree, of R360H and potentially A500V. Next, we characterized the functional consequences of a strong and a weak TLDc mutation (TBC1D24G501R and TBC1D24R360H) using Drosophila, where TBC1D24/Skywalker regulates synaptic vesicle trafficking. In a Drosophila model neuronally expressing human TBC1D24, we demonstrated that the TBC1D24G501R TLDc mutation causes activity-induced locomotion and synaptic vesicle trafficking defects, while TBC1D24R360H is benign. The neuronal phenotypes of the TBC1D24G501R mutation are consistent with exacerbated oxidative stress sensitivity, which is rescued by treating TBC1D24G501R mutant animals with antioxidants N-acetylcysteine amide or α-tocopherol as indicated by restored synaptic vesicle trafficking levels and sustained behavioural activity. Our data thus show that mutations in the TLDc domain of TBC1D24 cause Rolandic-type focal motor epilepsy and exercise-induced dystonia. The humanized TBC1D24G501R fly model exhibits sustained activity and vesicle transport defects. We propose that the TBC1D24/Sky TLDc domain is a reactive oxygen species sensor mediating synaptic vesicle trafficking rates that, when dysfunctional, causes a movement disorder in patients and flies. The TLDc and TBC domain mutations' response to antioxidant treatment we observed in the animal model suggests a potential for combining antioxidant-based therapeutic approaches to TBC1D24-associated disorders with previously described lipid-altering strategies for TBC domain mutations.
    MeSH term(s) Acetylcysteine/analogs & derivatives ; Acetylcysteine/therapeutic use ; Adolescent ; Amino Acid Motifs/genetics ; Amino Acid Sequence ; Animals ; Animals, Genetically Modified ; Antioxidants/therapeutic use ; Biological Transport/drug effects ; Catalytic Domain/genetics ; Child ; Child, Preschool ; Crystallography, X-Ray ; Disease Models, Animal ; Drosophila Proteins/chemistry ; Drosophila Proteins/genetics ; Drosophila melanogaster/genetics ; Drosophila melanogaster/physiology ; Dystonia/drug therapy ; Dystonia/etiology ; Epilepsy, Rolandic/drug therapy ; Epilepsy, Rolandic/genetics ; Female ; GTPase-Activating Proteins/chemistry ; GTPase-Activating Proteins/genetics ; GTPase-Activating Proteins/physiology ; Humans ; Infant ; Locomotion/genetics ; Locomotion/physiology ; Male ; Models, Molecular ; Mutation, Missense ; Neurons/physiology ; Oxidative Stress ; Pedigree ; Physical Exertion ; Protein Conformation ; Reactive Oxygen Species/metabolism ; Recombinant Proteins/metabolism ; Sequence Alignment ; Sequence Deletion ; Sequence Homology, Amino Acid ; Synaptic Vesicles/metabolism ; alpha-Tocopherol/therapeutic use ; rab GTP-Binding Proteins/chemistry ; rab GTP-Binding Proteins/genetics
    Chemical Substances Antioxidants ; Drosophila Proteins ; GTPase-Activating Proteins ; Reactive Oxygen Species ; Recombinant Proteins ; TBC1D24 protein, human ; N-Acetylcysteinamide (4N69717RKW) ; sky protein, Drosophila (EC 3.6.1.-.) ; rab GTP-Binding Proteins (EC 3.6.5.2) ; alpha-Tocopherol (H4N855PNZ1) ; Acetylcysteine (WYQ7N0BPYC)
    Language English
    Publishing date 2019-06-27
    Publishing country England
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awz175
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.

    Kumar, Akash / Zastrow, Diane B / Kravets, Elijah J / Beleford, Daniah / Ruzhnikov, Maura R Z / Grove, Megan E / Dries, Annika M / Kohler, Jennefer N / Waggott, Daryl M / Yang, Yaping / Huang, Yong / Mackenzie, Katherine M / Eng, Christine M / Fisher, Paul G / Ashley, Euan A / Teng, Joyce M / Stevenson, David A / Shieh, Joseph T / Wheeler, Matthew T /
    Bernstein, Jonathan A

    American journal of medical genetics. Part A

    2019  Volume 179, Issue 6, Page(s) 966–977

    Abstract: Phacomatosis pigmentovascularis (PPV) comprises a family of rare conditions that feature vascular abnormalities and melanocytic lesions that can be solely cutaneous or multisystem in nature. Recently published work has demonstrated that both vascular and ...

    Abstract Phacomatosis pigmentovascularis (PPV) comprises a family of rare conditions that feature vascular abnormalities and melanocytic lesions that can be solely cutaneous or multisystem in nature. Recently published work has demonstrated that both vascular and melanocytic abnormalities in PPV of the cesioflammea and cesiomarmorata subtypes can result from identical somatic mosaic activating mutations in the genes GNAQ and GNA11. Here, we present three new cases of PPV with features of the cesioflammea and/or cesiomarmorata subtypes and mosaic mutations in GNAQ or GNA11. To better understand the risk of potentially occult complications faced by such patients we additionally reviewed 176 cases published in the literature. We report the frequency of clinical findings, their patterns of co-occurrence as well as published recommendations for surveillance after diagnosis. Features assessed include: capillary malformation; dermal and ocular melanocytosis; glaucoma; limb asymmetry; venous malformations; and central nervous system (CNS) anomalies, such as ventriculomegaly and calcifications. We found that ocular findings are common in patients with phacomatosis cesioflammea and cesiomarmorata. Facial vascular involvement correlates with a higher risk of seizures (p = .0066). Our genetic results confirm the role of mosaic somatic mutations in GNAQ and GNA11 in phacomatosis cesioflammea and cesiomarmorata. Their clinical and molecular findings place these conditions on a clinical spectrum encompassing other GNAQ and GNA11 related disorders and inform recommendations for their management.
    MeSH term(s) Alleles ; Child ; Diagnosis, Differential ; GTP-Binding Protein alpha Subunits/genetics ; GTP-Binding Protein alpha Subunits, Gq-G11/genetics ; Genotype ; Humans ; Infant ; Magnetic Resonance Angiography ; Magnetic Resonance Imaging ; Male ; Mutation ; Neurocutaneous Syndromes/diagnosis ; Neurocutaneous Syndromes/genetics ; Phenotype ; Skin/pathology ; Whole Exome Sequencing
    Chemical Substances GNA11 protein, human ; GNAQ protein, human ; GTP-Binding Protein alpha Subunits ; GTP-Binding Protein alpha Subunits, Gq-G11 (EC 3.6.5.1)
    Language English
    Publishing date 2019-03-28
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Review
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.61134
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

    Mao, Dongxue / Reuter, Chloe M / Ruzhnikov, Maura R Z / Beck, Anita E / Farrow, Emily G / Emrick, Lisa T / Rosenfeld, Jill A / Mackenzie, Katherine M / Robak, Laurie / Wheeler, Matthew T / Burrage, Lindsay C / Jain, Mahim / Liu, Pengfei / Calame, Daniel / Küry, Sébastien / Sillesen, Martin / Schmitz-Abe, Klaus / Tonduti, Davide / Spaccini, Luigina /
    Iascone, Maria / Genetti, Casie A / Koenig, Mary K / Graf, Madeline / Tran, Alyssa / Alejandro, Mercedes / Lee, Brendan H / Thiffault, Isabelle / Agrawal, Pankaj B / Bernstein, Jonathan A / Bellen, Hugo J / Chao, Hsiao-Tuan

    American journal of human genetics

    2020  Volume 106, Issue 4, Page(s) 570–583

    Abstract: EIF2AK1 and EIF2AK2 encode members of the eukaryotic translation initiation factor 2 alpha kinase (EIF2AK) family that inhibits protein synthesis in response to physiologic stress conditions. EIF2AK2 is also involved in innate immune response and the ... ...

    Abstract EIF2AK1 and EIF2AK2 encode members of the eukaryotic translation initiation factor 2 alpha kinase (EIF2AK) family that inhibits protein synthesis in response to physiologic stress conditions. EIF2AK2 is also involved in innate immune response and the regulation of signal transduction, apoptosis, cell proliferation, and differentiation. Despite these findings, human disorders associated with deleterious variants in EIF2AK1 and EIF2AK2 have not been reported. Here, we describe the identification of nine unrelated individuals with heterozygous de novo missense variants in EIF2AK1 (1/9) or EIF2AK2 (8/9). Features seen in these nine individuals include white matter alterations (9/9), developmental delay (9/9), impaired language (9/9), cognitive impairment (8/9), ataxia (6/9), dysarthria in probands with verbal ability (6/9), hypotonia (7/9), hypertonia (6/9), and involuntary movements (3/9). Individuals with EIF2AK2 variants also exhibit neurological regression in the setting of febrile illness or infection. We use mammalian cell lines and proband-derived fibroblasts to further confirm the pathogenicity of variants in these genes and found reduced kinase activity. EIF2AKs phosphorylate eukaryotic translation initiation factor 2 subunit 1 (EIF2S1, also known as EIF2α), which then inhibits EIF2B activity. Deleterious variants in genes encoding EIF2B proteins cause childhood ataxia with central nervous system hypomyelination/vanishing white matter (CACH/VWM), a leukodystrophy characterized by neurologic regression in the setting of febrile illness and other stressors. Our findings indicate that EIF2AK2 missense variants cause a neurodevelopmental syndrome that may share phenotypic and pathogenic mechanisms with CACH/VWM.
    MeSH term(s) Adolescent ; Ataxia/genetics ; Child ; Child, Preschool ; Developmental Disabilities/genetics ; Female ; Genetic Variation/genetics ; Hereditary Central Nervous System Demyelinating Diseases/genetics ; Humans ; Infant ; Leukoencephalopathies/genetics ; Male ; Nervous System Malformations/genetics ; White Matter/pathology ; eIF-2 Kinase/genetics
    Chemical Substances EIF2AK1 protein, human (EC 2.7.11.1) ; EIF2AK2 protein, human (EC 2.7.11.1) ; eIF-2 Kinase (EC 2.7.11.1)
    Language English
    Publishing date 2020-03-19
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2020.02.016
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

    Chen, Dong-Hui / Méneret, Aurélie / Friedman, Jennifer R / Korvatska, Olena / Gad, Alona / Bonkowski, Emily S / Stessman, Holly A / Doummar, Diane / Mignot, Cyril / Anheim, Mathieu / Bernes, Saunder / Davis, Marie Y / Damon-Perrière, Nathalie / Degos, Bertrand / Grabli, David / Gras, Domitille / Hisama, Fuki M / Mackenzie, Katherine M / Swanson, Phillip D /
    Tranchant, Christine / Vidailhet, Marie / Winesett, Steven / Trouillard, Oriane / Amendola, Laura M / Dorschner, Michael O / Weiss, Michael / Eichler, Evan E / Torkamani, Ali / Roze, Emmanuel / Bird, Thomas D / Raskind, Wendy H

    Neurology

    2015  Volume 85, Issue 23, Page(s) 2026–2035

    Abstract: Objective: To investigate the clinical spectrum and distinguishing features of adenylate cyclase 5 (ADCY5)-related dyskinesia and genotype-phenotype relationship.: Methods: We analyzed ADCY5 in patients with choreiform or dystonic movements by exome ... ...

    Abstract Objective: To investigate the clinical spectrum and distinguishing features of adenylate cyclase 5 (ADCY5)-related dyskinesia and genotype-phenotype relationship.
    Methods: We analyzed ADCY5 in patients with choreiform or dystonic movements by exome or targeted sequencing. Suspected mosaicism was confirmed by allele-specific amplification. We evaluated clinical features in our 50 new and previously reported cases.
    Results: We identified 3 new families and 12 new sporadic cases with ADCY5 mutations. These mutations cause a mixed hyperkinetic disorder that includes dystonia, chorea, and myoclonus, often with facial involvement. The movements are sometimes painful and show episodic worsening on a fluctuating background. Many patients have axial hypotonia. In 2 unrelated families, a p.A726T mutation in the first cytoplasmic domain (C1) causes a relatively mild disorder of prominent facial and hand dystonia and chorea. Mutations p.R418W or p.R418Q in C1, de novo in 13 individuals and inherited in 1, produce a moderate to severe disorder with axial hypotonia, limb hypertonia, paroxysmal nocturnal or diurnal dyskinesia, chorea, myoclonus, and intermittent facial dyskinesia. Somatic mosaicism is usually associated with a less severe phenotype. In one family, a p.M1029K mutation in the C2 domain causes severe dystonia, hypotonia, and chorea. The progenitor, whose childhood-onset episodic movement disorder almost disappeared in adulthood, was mosaic for the mutation.
    Conclusions: ADCY5-related dyskinesia is a childhood-onset disorder with a wide range of hyperkinetic abnormal movements. Genotype-specific correlations and mosaicism play important roles in the phenotypic variability. Recurrent mutations suggest particular functional importance of residues 418 and 726 in disease pathogenesis.
    MeSH term(s) Adenylyl Cyclases/genetics ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; Dyskinesias/diagnosis ; Dyskinesias/genetics ; Female ; Genotype ; Humans ; Male ; Middle Aged ; Pedigree ; Phenotype ; Young Adult
    Chemical Substances Adenylyl Cyclases (EC 4.6.1.1) ; adenylyl cyclase type V (EC 4.6.1.1)
    Language English
    Publishing date 2015-11-04
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 207147-2
    ISSN 1526-632X ; 0028-3878
    ISSN (online) 1526-632X
    ISSN 0028-3878
    DOI 10.1212/WNL.0000000000002058
    Database MEDical Literature Analysis and Retrieval System OnLINE

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