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KARNATAKA, BENGALURU.
ANNEXURE-II
PROFORMA FOR REGISTRATION OF SUBJECTS FOR DISSERTATION
Many inborn errors of metabolism and genetic disorders affect the brain. Magnetic resonance
imaging has proven to be a valuable tool to evaluate the brain structure, biochemistry, blood
flow and function. Its non-invasive nature allows for longitudinal assessments and follow-up. It
has a great potential for investigation and management of IEM and other genetic conditions 1.
Developmental delay is the most common neurological form encountered in patients with IEM 2.
half cases of identified causes are genetic in origin. Genetic etiologies are multiple and include
disorders3. Most IEM are inherited in autosomal recessive pattern, few are inherited in an X-
linked pattern2.
Inborn errors of metabolism in children can be challenging to interpret because of the similarity
of their appearances on imaging. There are important clues to diagnosis based on geographical
distribution of lesions (e.g., subcortical vs deep white matter or frontal vs parietooccipital), other
imaging features (e.g., contrast enhancement, calcification, cysts, cortical dysplasia), clinical
clinical information along with salient imaging features can help in arriving at an appropriate
diagnosis2.
Very few studies have been done in this region on this topic and hence the study is taken.
patients (46 Males and 35 Females) presenting with developmental delay was conducted. It was
seen that only 11% patients presented with only developmental delay, rest 89% presented with
additional features such as epilepsy, neurological deficits, abnormalities of head size, facial
dysmorphism, visual and auditory disturbances and gait disturbances. Normal MRI findings
were seen in 32% (26 cases), abnormal morphological appearance was seen in the remaining
68% (55 cases).Abnormalities of ventricles and white matter mainly the corpus callosum were
found to be most common as seen in 62% and 58% cases respectively. Nonspecific
abnormalities were found in 22% of children; like Prominent Virchow-Robin spaces in six
cases, abnormal basal ganglia in four cases and abnormal sulcation in two cases. Traumatic/
Neurovascular Diseases was the most consistent etiology. Proportion of children with
Congenital & Developmental, Metabolic and Degenerative, neoplastic and non specific were
Dhahran, from January 2013 to January 2020. Out of 133 cases, 72 (49 males, 90% AR) were
found to have neurometabolic disorders. Sensitivity, specificity, positive and negative predictive
values were calculated as 81.94% )CI, 71.11-90.02(, 67.21% )CI, 54.00-78.69(, 74.68% )CI,
66.96 81.11( and 75.93% )CI, 65.16-84.17( respectively. Findings were found significant5.
Sciences, Rishikesh, Uttarakhand, 50 children with the developmental delay between 6 months
to 6 years of age were present. The mean age was 31.32 ± 20.56 months. The sensitivity of MRI
was 72%. 81.3% of the children with microcephaly had abnormal MRI. The most common
congenital/developmental defects and metabolic diseases (10% each). The most commonly
involved region of the cerebral cortex was the occipital lobe (44%)6.
A prospective study conducted at Sultan Qaboos University on 110 children with global
developmental delay. Magnetic resonance imaging and metabolic screening were the most
frequently ordered investigations. Abnormal MRI and metabolic screening were significantly
associated with detection of etiology. Etiology was detected in 71.8% of the children. It was
concluded that MRI was the most significant investigation to detect the abnormality7.
A prospective & descriptive study in Ethiopia on 65 children concluded MRI findings
divided into six categories: Normal: 12 patients (18.5%), Metabolic and degenerative
(26.2%), Infection: 3 patient (4.6%), Neoplastic diseases: Only one patient (1.5%),
patient (7.7%)8
A hospital based retrospective observational study was carried out in Kamineni institute
with features of developmental delay. Normal morphological MRI findings were seen in
MRI were seen in 87.5%, out of which 40% showed metabolic and degenerative
disorders, 37.5% of the findings depicted congenital malformations, 10% of them were
of infectious aetiology. The white matter was the most commonly involved anatomical
1. To study magnetic resonance imaging of brain findings in children with genetic and
2. To correlate MRI findings with clinical features, metabolic evaluation and genetic testing.
College, Kalaburagi-585105
iii. Duration of study: 1st June, 2024 to 30th November, 2025 (18 months)
Reference: Clinical spectrum of inborn errors of metabolism in children by Jayashree K.R et al 10.
= 7.854 X 0.000399/0.000081
= 0.0031/0.000081
= 38.27
v. Sampling Procedure: By using simple random sampling, study subjects will be selected
1. All clinically diagnosed patients with inborn errors of metabolism and genetic disorders in
Exclusion Criteria:
2. Children who are claustrophobic or have any other common contraindication of magnetic
resonance imaging.
After approval from institutional ethical committee written informed consent will be
obtained from the parents/guardian in their own vernacular language and patient details
Study will be conducted with prestructured and preevaluated proforma on the patients
referred for MRI of brain to department of radio diagnosis, after explaining them about
The patient will be sedated if needed and subjected to PHILLIPS Achieva 1.5 Tesla MRI
machine. Following Sequences will be taken: AXIAL T1 TSE , AXIAL T2 TSE, AXIAL
SPECTROSCOPY
The data collected will be analysed statistically using IBM SPSS Software version 20.0.
For quantitative data analysis mean, standard deviation and t test will be applied. For
qualitative data analysis percentages & chi-square test will be applied for test of
7.3. Does the study require any investigation or interventions to be conducted in patients or
7.4. Has ethical clearance been obtained from your institution in case of 7.3?
The study has been applied for approval from the “Institutional Ethics Committee”
1. Gropman AL, Anderson A. Novel imaging technologies for genetic diagnoses in the
Inborn Errors of Metabolism: Combining Clinical and Radiologic Clues to Solve the
4. Ali AS, Syed NP, Murthy GS, Nori M, Abkari A, Pooja BK, Venkateswarlu J. Magnetic
Sciences.2022;32(4):773-780.
12.2. Signature
I Dr. R SAMYUKTHA under the guidance of Dr. SHRUTI S PATIL will be conducting a clinical
study.
conveyed to me in my own language. I have had the opportunity to ask questions about it & all
questions that I have asked have been answered to my satisfaction. I consent voluntarily to participate as
a participant in this research & understand that I have the right to withdraw from the research at any
Date: (dd/mm/yyyy)………………
Illiterate participant
I have read and witnessed the accurate reading of the consent form to the potential participant and the
individual has had the opportunity to ask questions, I confirm that the individual has given consent
freely.
Date: (dd/mm/yyyy)……………
I have accurately read out the information sheet to the potential participant and to the best of my ability
made sure that the participant understands the nature, purpose and expected effects of the study. I
confirm that the participant was given an opportunity to ask questions about the study and all
the questions asked by the participant have been answered correctly and to the best of my ability. I
confirm that the individual has not been coerced into giving consent and the consent has been given
freely and voluntarily. In case of any doubt I have been asked to contact,
Dr. R SAMYUKTHA
Date: (dd/mm/yyyy)……………
ರೋಗಿಗಳ ಒಪ್ಪಿಗೆ ಪತ್ರ
ಮ್ಯಾಗ್ನೆಟಿಕ್ ರೆಸೋನೆನ್ಸ್ ಇಮೇಜಿಂಗ್ ಅನ್ನು ಮಕ್ಕಳ ವಯಸ್ಸಿನ ಗುಂಪಿನಲ್ಲಿ ಕ್ಲಿನಿಕಲ್ ಸಂಶೋಧನೆಗಳೊಂದಿಗೆ ಪರಸ್ಪರ
ಸಂಬಂಧಿಸಲು ಒಂದು ಅಧ್ಯಯನ” ಎಂಬ ಅಧ್ಯಯನಕ್ಕೆ ನನ್ನ ಸಂಪೂರ್ಣ ಒಪ್ಪಿಗೆಯನ್ನು ನೀಡಿರುತ್ತೇನೆ. ಈ ಅಧ್ಯಯನವನ್ನು
ವೈದ್ಯರುಗಳು ನನಗೆ ತೃಪ್ತಿಕರವಾಗಿ ಈ ವಿಷಯ ಮತ್ತುಇದರ ಅಗತ್ಯತೆಯ ಬಗ್ಗೆ ನಮ್ಮದೇ ಭಾಷೆಯಲ್ಲಿ ತಿಳಿಸಿರುತ್ತಾರೆ.
ರೋಗಿಯಸಹಿ: ಸಾಕ್ಷಿಗಳಸಹಿ:
ವೈದ್ಯರಸಹಿ: ತಾರೀಖು:
in a language well understood by us to our satisfaction about the study being carried out. I hereby give
my valid consent for the patient to be as an object in the study “A STUDY TO CORRELATE
conducted by Dr.R SAMYUKTHA under the guidance of Dr.SHRUTI S PATIL in the Department of
Doctors examining my son/daughter have satisfactorily informed me about this matter and its
The attending doctors have informed me to my satisfaction and in the language best understood by
me, the purpose of this study, the materials to be used during the course of this study as well as the
side effects/ complications associated with the methods/tools to be used. I shall not hold the doctors
I am also aware of our right to opt out of the study without prejudice to further treatment at any time
during the course of the study without having to give any reasons to do so
DATE:
DATE:
ನ್ಯೂರೋಮೆಟಾಬಾಲಿಕ್ ಮತ್ತು ಜೆನೆಟಿಕ್ ಡಿಸಾರ್ಡರ್ಗಳಲ್ಲಿ ಮೆದುಳಿನ ಮ್ಯಾಗ್ನೆಟಿಕ್ ರೆಸೋನೆನ್ಸ್ ಇಮೇಜಿಂಗ್ ಅನ್ನು ಮಕ್ಕಳ
ನನ್ನಮಗ/ಮಗಳನ್ನುಪರೀಕ್ಷಿಸುತ್ತಿರುವವೈದ್ಯರುಗಳುನನಗೆತೃಪ್ತಿಕರವಾಗಿಈವಿಷಯಮತ್ತುಇದರಅಗತ್ಯತೆಯಬಗ್ಗೆನಮ್ಮದೇಭಾಷೆ
ಯಲ್ಲಿತಿಳಿಸಿರುತ್ತಾರೆ.ನಮಗೆಈಅಧ್ಯಯನದವೇಳೆಯಲ್ಲಿಯಾವುದೇತೊಂದರೆಗಳುಆದಲ್ಲಿಪರೀಕ್ಷಿಸುವವೈದ್ಯರುಗಳನ್ನುಹೂಣೆಗಾರ
ರನ್ನಾಗಿಮಾಡುವುದಿಲ್ಲವೆಂದುಒಪ್ಪಿಕೊಂಡಿರುತ್ತೇನೆಹಾಗೂನಾವುಯಾವುದೇಸಮಯದಲ್ಲಿಈಅಧ್ಯಯನದಿಂದಹೊರಹೋಗಲುಇಚ್ಛಿ
ಸಿದಲ್ಲಿಹೋಗಬಹುದಾಗಿರುತ್ತದೆಎಂಬವಿಷಯವನ್ನುವೈದ್ಯರುನಮಗೆತಿಳಿಸಿರುತ್ತಾರೆ
ರೋಗಿಯತಂದೆ/ತಾಯಿಸಹಿ: ಸಾಕ್ಷಿಗಳಸಹಿ:
ವೈದ್ಯರಸಹಿ: ತಾರೀಖು:
PROFORMA FOR THE STUDY
Sex: D.O.A:
Occupation: D.O.D:
Address:
1) Chief complaints:
4) Family history:
6) Developmental history:
7) Immunization history:
9) CNS examination:
-Serum CPK
-Fundoscopy
-BERA
-X-rays/skeletal surveys
-Metabolic tests
-Electroencephalography
-Genetic studies
10) MRI BRAIN FINDINGS :
3. Gray and white matter: The sulcation and gyration of the gray matter based on normal
MR brain anatomy.
4. Myelination
7. Cerebellum: morphology.
9. MR contrast:
10. MR spectroscopy:
10) REMARKS: