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Infant Nutrition
Published in Praveen S. Goday, Cassandra L. S. Walia, Pediatric Nutrition for Dietitians, 2022
Olivia Mayer, Yasemin Cagil, John Kerner
The period of 6 months to a year of age in an infant is full of developmental milestones that help perfect the skills of nutrient acquisition and consumption. Around 6–7 months, the infant starts sitting unsupported and may even be crawling. At 7 months, an infant starts reaching for larger objects and can transfer from hand to hand. By 9–10 months, the infant is pivoting while sitting and can pull to a standing position. Around this time, human milk or formula feeding may decrease to about four to five times per day. More fine motor skills get acquired such as thumb-finger grasp at 8–9 months and pincer grasp at 1 year of age. Additionally, the primary teeth erupt between 6 and 12 months to assist with cutting and biting. Infants are expected to have tripled their birth weight by their first birthday. Their length at that time will have increased by 50%. Human milk or formula feeding may further decrease to around three times per day at the 1-year mark.
Planning the Initial Version
Published in Lucy Jane Miller, Developing Norm-Referenced Standardized Tests, 2020
Operational definitions are most successfully formulated when behaviors are viewed from several points of view. The statement “displays adequate pincer grasp” is an example of a poorly (non-operationally) defined trait. Therapists or testers should choose different behaviors that might qualify as “adequate pincer grasp,” such as picking up a raisin, moving a peg in a pegboard, or buttoning a shirt. In this case, three therapists might disagree that the child “passed” the item “adequate pincer grasp,” depending upon which of the three behaviors they selected for observation. If consensus by experts can be reached on what behaviors qualify as “adequate pincer grasp” then an increase in the rate of agreement in observations would probably be manifested.
A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome
Published in Ophthalmic Genetics, 2021
Deena Godfrey, Alcy Torres, Gena Heidary, Hovra Zahoor, Arthur Lee, Gerard Berry, Elizabeth Engle
Developmental milestones were globally delayed. At four months of age, she was unable to use her hands, feed herself, or reach for a toy. At one year of age, she did not have a pincer grasp and was only able to grasp objects if placed in her hands. By two years of age, language development was limited to sounds and screams. She had a decreased truncal tone and limited range of motion. Reflexes were 1 + in the upper extremities and difficult to assess in the lower extremities due to contractures.
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy
Published in Journal of Neurogenetics, 2021
Elizabeth A. Burke, Morgan Sturgeon, Diane B. Zastrow, Liliana Fernandez, Cameron Prybol, Shruti Marwaha, Edward P. Frothingham, Patricia A. Ward, Christine M. Eng, Laure Fresard, Stephen B. Montgomery, Gregory M. Enns, Paul G. Fisher, Lynne A. Wolfe, Brian Harding, Blake Carrington, Kevin Bishop, Raman Sood, Yan Huang, Abdel Elkahloun, Camilo Toro, Alexander G. Bassuk, Matthew T. Wheeler, Thomas C. Markello, William A. Gahl, May Christine V. Malicdan
Patient 2, the younger brother of Patient 1, is the third of four children (Figure 1(A)). He was born full-term after an uncomplicated pregnancy and had a normal newborn exam. Developmental milestones including rolling over and sitting were achieved normally, but he was significantly delayed in crawling (16 months) and cruising (18–29 months) and never walked independently, said words, or developed a pincer grasp. He also demonstrated postnatal growth retardation. By the age of 16 months, he showed decreased tone and extensor posturing with vertical suspension. He had oral-motor dysphagia with decreased oral, lingual, and facial tone at 18 months. At 20 months, EEG epileptiform discharges were recorded and prominent ventricles, mildly decreased cortical volume, and a thin corpus callosum was detected by MRI. By 23 months, he had hearing loss and dystonic movement when reaching for objects. At 2 years of age, he was unsteady with mild shaking (including the tongue), axial hypotonia, increased extensor tone, and areflexia. At the same time, he developed gastroesophageal reflux disease and began losing weight, which was treated by placing a G-tube. At the age of 3, serial EEGs showed multifocal sharp waves and spikes (less prominent over the temporal regions) and background disorganization, associated with myoclonus. Seizures occurred shortly thereafter. At 5 years of age, a ketogenic diet was initiated to control his seizures. He also displayed symptoms of dysautonomia including severe GI dysmotility, urinary retention, abnormal respiratory drive with nocturnal hypoventilation, and temperature dysregulation. At his current age of 9, he babbles but does not speak words, is unable to walk or sit up independently, but can move his hands, head, legs, and tongue slightly. He experiences periods of several weeks without seizures, but if regular sleep and bowel movements are not maintained, he generally seizes when asleep or upon awakening. He often experiences some myoclonus-like tremors prior to a seizure.