fetal growth restriction (FGR) affects 3 10% of babies worldwide and is associated with increased risk of stillbirth, postnatal disability, and impaired motor and cognitive functions.
13 We report for the first time that patients with a mutation in the PTRH2 gene develop an infantile multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) with intellectual disability, postnatal microcephaly, progressive cerebellar atrophy, hearing impairment, polyneuropathy, failure to thrive, and organ fibrosis with exocrine pancreas insufficiency.
We have now identified de novo missense variants clustering in the BTB-domain-encoding region of RHOBTB2 in ten individuals with a similar phenotype, including early-onset epilepsy, severe intellectual disability, postnatal microcephaly, and movement disorders.
We conducted a systematic review to determine the effectiveness of healthcare interventions to improve outcomes for pregnant and postnatal women with disability and for their families.
Therefore, we decided to undertake a systematic review with the objective of determining the effectiveness of healthcare interventions in improving outcomes for pregnant and postnatal women with disability and for their families.
The two affected children suffer from intellectual disability, postnatal microcephaly, growth retardation, progressive ataxia, distal muscle weakness, peripheral demyelinating sensorimotor neuropathy, sensorineural deafness, exocrine pancreas insufficiency, hypothyroidism, and show signs of liver fibrosis.
Studies on pregnant and postnatal women with disability and their families which evaluated the effectiveness of an intervention using a design that met the criteria used by the Cochrane Effective Practice and Organization of Care group were eligible for inclusion in this review.
Altogether, WDR73 mutations cause Galloway-Mowat syndrome in a particular subset of individuals presenting with late-onset nephrotic syndrome, postnatal microcephaly, severe intellectual disability, and homogenous brain MRI features.
Interventions to improve quality and accessibility of postnatal care for women with disability and their families: In two randomized controlled studies (Keltner et al., Scafidi & Field) [ 20, 22] the intervention was administrated postnatally.
Indeed, two further missense mutations in ATP1A3 have been found in a child with catastrophic early life epilepsy (G358V), and in another child with epilepsy, episodic prolonged apnea, postnatal microcephaly, and severe developmental disability (I363N; Paciorkowski et al., 2015).
In another study [ 25], 40%% of women with postnatal LPP reported moderate to severe disability with pain intensity being the major explanatory variable for disability level.
